ID stringlengths 13 17 | question stringlengths 88 1.13k | answer stringlengths 6 156 | reference_sequence stringlengths 4.1k 4.1k | variant_sequence stringlengths 4.1k 4.1k |
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Task1_train_31700 | Consider a variant on Chromosome X in gene G6PD (glucose-6-phosphate dehydrogenase). Determine its clinical classification and disease relevance. | Pathogenic; not specified | AAATCCCAGCACCACCTGGTTATTTTGTTCCCTGCCGGCCTCACCTCCTAGAACCCGGGCCACAAGTGCAGGGACCATAGTGTCTGGTTTCGCCATCTCCCTGGCAGGACACATGCTGCACTGAAACACCCAGGGGCTGTGTGGGGAGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGC... | AAATCCCAGCACCACCTGGTTATTTTGTTCCCTGCCGGCCTCACCTCCTAGAACCCGGGCCACAAGTGCAGGGACCATAGTGTCTGGTTTCGCCATCTCCCTGGCAGGACACATGCTGCACTGAAACACCCAGGGGCTGTGTGGGGAGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGC... |
Task1_train_31701 | Given this variant in gene G6PD (glucose-6-phosphate dehydrogenase) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | AAATCCCAGCACCACCTGGTTATTTTGTTCCCTGCCGGCCTCACCTCCTAGAACCCGGGCCACAAGTGCAGGGACCATAGTGTCTGGTTTCGCCATCTCCCTGGCAGGACACATGCTGCACTGAAACACCCAGGGGCTGTGTGGGGAGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGC... | AAATCCCAGCACCACCTGGTTATTTTGTTCCCTGCCGGCCTCACCTCCTAGAACCCGGGCCACAAGTGCAGGGACCATAGTGTCTGGTTTCGCCATCTCCCTGGCAGGACACATGCTGCACTGAAACACCCAGGGGCTGTGTGGGGAGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGC... |
Task1_train_31702 | Here is a variant affecting G6PD (glucose-6-phosphate dehydrogenase) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | CTCACCTCCTAGAACCCGGGCCACAAGTGCAGGGACCATAGTGTCTGGTTTCGCCATCTCCCTGGCAGGACACATGCTGCACTGAAACACCCAGGGGCTGTGTGGGGAGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGA... | CTCACCTCCTAGAACCCGGGCCACAAGTGCAGGGACCATAGTGTCTGGTTTCGCCATCTCCCTGGCAGGACACATGCTGCACTGAAACACCCAGGGGCTGTGTGGGGAGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGA... |
Task1_train_31703 | A variant found in Chromosome X affects G6PD (glucose-6-phosphate dehydrogenase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | GGGCCACAAGTGCAGGGACCATAGTGTCTGGTTTCGCCATCTCCCTGGCAGGACACATGCTGCACTGAAACACCCAGGGGCTGTGTGGGGAGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGAAGGACCCTCCCCTTGGG... | GGGCCACAAGTGCAGGGACCATAGTGTCTGGTTTCGCCATCTCCCTGGCAGGACACATGCTGCACTGAAACACCCAGGGGCTGTGTGGGGAGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGAAGGACCCTCCCCTTGGG... |
Task1_train_31704 | A mutation found in G6PD (glucose-6-phosphate dehydrogenase) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | GGCCACAAGTGCAGGGACCATAGTGTCTGGTTTCGCCATCTCCCTGGCAGGACACATGCTGCACTGAAACACCCAGGGGCTGTGTGGGGAGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGAAGGACCCTCCCCTTGGGC... | GGCCACAAGTGCAGGGACCATAGTGTCTGGTTTCGCCATCTCCCTGGCAGGACACATGCTGCACTGAAACACCCAGGGGCTGTGTGGGGAGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGAAGGACCCTCCCCTTGGGC... |
Task1_train_31705 | This variant affects the gene G6PD (glucose-6-phosphate dehydrogenase) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | CCACAAGTGCAGGGACCATAGTGTCTGGTTTCGCCATCTCCCTGGCAGGACACATGCTGCACTGAAACACCCAGGGGCTGTGTGGGGAGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGAAGGACCCTCCCCTTGGGCCT... | CCACAAGTGCAGGGACCATAGTGTCTGGTTTCGCCATCTCCCTGGCAGGACACATGCTGCACTGAAACACCCAGGGGCTGTGTGGGGAGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGAAGGACCCTCCCCTTGGGCCT... |
Task1_train_31706 | A sequence alteration has been identified in G6PD (glucose-6-phosphate dehydrogenase) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | CCACAAGTGCAGGGACCATAGTGTCTGGTTTCGCCATCTCCCTGGCAGGACACATGCTGCACTGAAACACCCAGGGGCTGTGTGGGGAGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGAAGGACCCTCCCCTTGGGCCT... | CCACAAGTGCAGGGACCATAGTGTCTGGTTTCGCCATCTCCCTGGCAGGACACATGCTGCACTGAAACACCCAGGGGCTGTGTGGGGAGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGAAGGACCCTCCCCTTGGGCCT... |
Task1_train_31707 | This mutation occurs in G6PD (glucose-6-phosphate dehydrogenase) on Chromosome X. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | CACAAGTGCAGGGACCATAGTGTCTGGTTTCGCCATCTCCCTGGCAGGACACATGCTGCACTGAAACACCCAGGGGCTGTGTGGGGAGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGAAGGACCCTCCCCTTGGGCCTC... | CACAAGTGCAGGGACCATAGTGTCTGGTTTCGCCATCTCCCTGGCAGGACACATGCTGCACTGAAACACCCAGGGGCTGTGTGGGGAGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGAAGGACCCTCCCCTTGGGCCTC... |
Task1_train_31708 | Gene G6PD (glucose-6-phosphate dehydrogenase) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | GTGCAGGGACCATAGTGTCTGGTTTCGCCATCTCCCTGGCAGGACACATGCTGCACTGAAACACCCAGGGGCTGTGTGGGGAGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGAAGGACCCTCCCCTTGGGCCTCTGGCG... | GTGCAGGGACCATAGTGTCTGGTTTCGCCATCTCCCTGGCAGGACACATGCTGCACTGAAACACCCAGGGGCTGTGTGGGGAGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGAAGGACCCTCCCCTTGGGCCTCTGGCG... |
Task1_train_31709 | Here’s a variant in G6PD (glucose-6-phosphate dehydrogenase) located on Chromosome X. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | GGGACCATAGTGTCTGGTTTCGCCATCTCCCTGGCAGGACACATGCTGCACTGAAACACCCAGGGGCTGTGTGGGGAGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGAAGGACCCTCCCCTTGGGCCTCTGGCGGGAGT... | GGGACCATAGTGTCTGGTTTCGCCATCTCCCTGGCAGGACACATGCTGCACTGAAACACCCAGGGGCTGTGTGGGGAGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGAAGGACCCTCCCCTTGGGCCTCTGGCGGGAGT... |
Task1_train_31710 | This sequence variant lies in G6PD (glucose-6-phosphate dehydrogenase) on Chromosome X. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | TGTCTGGTTTCGCCATCTCCCTGGCAGGACACATGCTGCACTGAAACACCCAGGGGCTGTGTGGGGAGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGAAGGACCCTCCCCTTGGGCCTCTGGCGGGAGTGCTGGATCTT... | TGTCTGGTTTCGCCATCTCCCTGGCAGGACACATGCTGCACTGAAACACCCAGGGGCTGTGTGGGGAGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGAAGGACCCTCCCCTTGGGCCTCTGGCGGGAGTGCTGGATCTT... |
Task1_train_31711 | This mutation is located in gene G6PD (glucose-6-phosphate dehydrogenase) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | CATCTCCCTGGCAGGACACATGCTGCACTGAAACACCCAGGGGCTGTGTGGGGAGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGAAGGACCCTCCCCTTGGGCCTCTGGCGGGAGTGCTGGATCTTGGACTCTGGCCTC... | CATCTCCCTGGCAGGACACATGCTGCACTGAAACACCCAGGGGCTGTGTGGGGAGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGAAGGACCCTCCCCTTGGGCCTCTGGCGGGAGTGCTGGATCTTGGACTCTGGCCTC... |
Task1_train_31712 | This sequence change occurs on Chromosome X, altering G6PD (glucose-6-phosphate dehydrogenase). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | GACACATGCTGCACTGAAACACCCAGGGGCTGTGTGGGGAGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGAAGGACCCTCCCCTTGGGCCTCTGGCGGGAGTGCTGGATCTTGGACTCTGGCCTCCAGAACTGGGAGAA... | GACACATGCTGCACTGAAACACCCAGGGGCTGTGTGGGGAGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGAAGGACCCTCCCCTTGGGCCTCTGGCGGGAGTGCTGGATCTTGGACTCTGGCCTCCAGAACTGGGAGAA... |
Task1_train_31713 | Chromosome X houses a mutation in gene G6PD (glucose-6-phosphate dehydrogenase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not specified | GACACATGCTGCACTGAAACACCCAGGGGCTGTGTGGGGAGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGAAGGACCCTCCCCTTGGGCCTCTGGCGGGAGTGCTGGATCTTGGACTCTGGCCTCCAGAACTGGGAGAA... | GACACATGCTGCACTGAAACACCCAGGGGCTGTGTGGGGAGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGAAGGACCCTCCCCTTGGGCCTCTGGCGGGAGTGCTGGATCTTGGACTCTGGCCTCCAGAACTGGGAGAA... |
Task1_train_31714 | Gene G6PD (glucose-6-phosphate dehydrogenase), found on Chromosome X, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | ACACATGCTGCACTGAAACACCCAGGGGCTGTGTGGGGAGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGAAGGACCCTCCCCTTGGGCCTCTGGCGGGAGTGCTGGATCTTGGACTCTGGCCTCCAGAACTGGGAGAAT... | ACACATGCTGCACTGAAACACCCAGGGGCTGTGTGGGGAGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGAAGGACCCTCCCCTTGGGCCTCTGGCGGGAGTGCTGGATCTTGGACTCTGGCCTCCAGAACTGGGAGAAT... |
Task1_train_31715 | The gene G6PD (glucose-6-phosphate dehydrogenase) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | ACACCCAGGGGCTGTGTGGGGAGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGAAGGACCCTCCCCTTGGGCCTCTGGCGGGAGTGCTGGATCTTGGACTCTGGCCTCCAGAACTGGGAGAATCAGCCTATGTTGAGAGC... | ACACCCAGGGGCTGTGTGGGGAGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGAAGGACCCTCCCCTTGGGCCTCTGGCGGGAGTGCTGGATCTTGGACTCTGGCCTCCAGAACTGGGAGAATCAGCCTATGTTGAGAGC... |
Task1_train_31716 | This variant affects the gene G6PD (glucose-6-phosphate dehydrogenase) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Malaria, susceptibility to | ACACCCAGGGGCTGTGTGGGGAGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGAAGGACCCTCCCCTTGGGCCTCTGGCGGGAGTGCTGGATCTTGGACTCTGGCCTCCAGAACTGGGAGAATCAGCCTATGTTGAGAGC... | ACACCCAGGGGCTGTGTGGGGAGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGAAGGACCCTCCCCTTGGGCCTCTGGCGGGAGTGCTGGATCTTGGACTCTGGCCTCCAGAACTGGGAGAATCAGCCTATGTTGAGAGC... |
Task1_train_31717 | Given this context: Chromosome X, gene G6PD (glucose-6-phosphate dehydrogenase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | CACCCAGGGGCTGTGTGGGGAGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGAAGGACCCTCCCCTTGGGCCTCTGGCGGGAGTGCTGGATCTTGGACTCTGGCCTCCAGAACTGGGAGAATCAGCCTATGTTGAGAGCT... | CACCCAGGGGCTGTGTGGGGAGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGAAGGACCCTCCCCTTGGGCCTCTGGCGGGAGTGCTGGATCTTGGACTCTGGCCTCCAGAACTGGGAGAATCAGCCTATGTTGAGAGCT... |
Task1_train_31718 | A sequence alteration has been identified in G6PD (glucose-6-phosphate dehydrogenase) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | CAGGGGCTGTGTGGGGAGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGAAGGACCCTCCCCTTGGGCCTCTGGCGGGAGTGCTGGATCTTGGACTCTGGCCTCCAGAACTGGGAGAATCAGCCTATGTTGAGAGCTGCCC... | CAGGGGCTGTGTGGGGAGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGAAGGACCCTCCCCTTGGGCCTCTGGCGGGAGTGCTGGATCTTGGACTCTGGCCTCCAGAACTGGGAGAATCAGCCTATGTTGAGAGCTGCCC... |
Task1_train_31719 | Consider a variant on Chromosome X in gene G6PD (glucose-6-phosphate dehydrogenase). Determine its clinical classification and disease relevance. | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | GGGGCTGTGTGGGGAGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGAAGGACCCTCCCCTTGGGCCTCTGGCGGGAGTGCTGGATCTTGGACTCTGGCCTCCAGAACTGGGAGAATCAGCCTATGTTGAGAGCTGCCCAG... | GGGGCTGTGTGGGGAGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGAAGGACCCTCCCCTTGGGCCTCTGGCGGGAGTGCTGGATCTTGGACTCTGGCCTCCAGAACTGGGAGAATCAGCCTATGTTGAGAGCTGCCCAG... |
Task1_train_31720 | This sequence change occurs on Chromosome X, altering G6PD (glucose-6-phosphate dehydrogenase). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; G6PD TOMAH | GGGGCTGTGTGGGGAGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGAAGGACCCTCCCCTTGGGCCTCTGGCGGGAGTGCTGGATCTTGGACTCTGGCCTCCAGAACTGGGAGAATCAGCCTATGTTGAGAGCTGCCCAG... | GGGGCTGTGTGGGGAGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGAAGGACCCTCCCCTTGGGCCTCTGGCGGGAGTGCTGGATCTTGGACTCTGGCCTCCAGAACTGGGAGAATCAGCCTATGTTGAGAGCTGCCCAG... |
Task1_train_31721 | This variant lies on Chromosome X and affects the gene G6PD (glucose-6-phosphate dehydrogenase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | GGGGCTGTGTGGGGAGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGAAGGACCCTCCCCTTGGGCCTCTGGCGGGAGTGCTGGATCTTGGACTCTGGCCTCCAGAACTGGGAGAATCAGCCTATGTTGAGAGCTGCCCAG... | GGGGCTGTGTGGGGAGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGAAGGACCCTCCCCTTGGGCCTCTGGCGGGAGTGCTGGATCTTGGACTCTGGCCTCCAGAACTGGGAGAATCAGCCTATGTTGAGAGCTGCCCAG... |
Task1_train_31722 | This variant affects the gene G6PD (glucose-6-phosphate dehydrogenase) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | GGGGAGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGAAGGACCCTCCCCTTGGGCCTCTGGCGGGAGTGCTGGATCTTGGACTCTGGCCTCCAGAACTGGGAGAATCAGCCTATGTTGAGAGCTGCCCAGTGTGTGGCCC... | GGGGAGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGAAGGACCCTCCCCTTGGGCCTCTGGCGGGAGTGCTGGATCTTGGACTCTGGCCTCCAGAACTGGGAGAATCAGCCTATGTTGAGAGCTGCCCAGTGTGTGGCCC... |
Task1_train_31723 | A change on Chromosome X affects gene G6PD (glucose-6-phosphate dehydrogenase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | AGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGAAGGACCCTCCCCTTGGGCCTCTGGCGGGAGTGCTGGATCTTGGACTCTGGCCTCCAGAACTGGGAGAATCAGCCTATGTTGAGAGCTGCCCAGTGTGTGGCCCTTCT... | AGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGAAGGACCCTCCCCTTGGGCCTCTGGCGGGAGTGCTGGATCTTGGACTCTGGCCTCCAGAACTGGGAGAATCAGCCTATGTTGAGAGCTGCCCAGTGTGTGGCCCTTCT... |
Task1_train_31724 | This is a variant in G6PD (glucose-6-phosphate dehydrogenase), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | GCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGAAGGACCCTCCCCTTGGGCCTCTGGCGGGAGTGCTGGATCTTGGACTCTGGCCTCCAGAACTGGGAGAATCAGCCTATGTTGAGAGCTGCCCAGTGTGTGGCCCTTCTG... | GCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGAAGGACCCTCCCCTTGGGCCTCTGGCGGGAGTGCTGGATCTTGGACTCTGGCCTCCAGAACTGGGAGAATCAGCCTATGTTGAGAGCTGCCCAGTGTGTGGCCCTTCTG... |
Task1_train_31725 | This genomic variant is located on Chromosome X, within the G6PD (glucose-6-phosphate dehydrogenase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | CGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGAAGGACCCTCCCCTTGGGCCTCTGGCGGGAGTGCTGGATCTTGGACTCTGGCCTCCAGAACTGGGAGAATCAGCCTATGTTGAGAGCTGCCCAGTGTGTGGCCCTTCTGCCTGGAAGGGGTGGCTGGGC... | CGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGAAGGACCCTCCCCTTGGGCCTCTGGCGGGAGTGCTGGATCTTGGACTCTGGCCTCCAGAACTGGGAGAATCAGCCTATGTTGAGAGCTGCCCAGTGTGTGGCCCTTCTGCCTGGAAGGGGTGGCTGGGC... |
Task1_train_31726 | A variant found in Chromosome X affects G6PD (glucose-6-phosphate dehydrogenase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | GTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGAAGGACCCTCCCCTTGGGCCTCTGGCGGGAGTGCTGGATCTTGGACTCTGGCCTCCAGAACTGGGAGAATCAGCCTATGTTGAGAGCTGCCCAGTGTGTGGCCCTTCTGCCTGGAAGGGGTGGCTGGGCCTGGCTGTGCATCACT... | GTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGAAGGACCCTCCCCTTGGGCCTCTGGCGGGAGTGCTGGATCTTGGACTCTGGCCTCCAGAACTGGGAGAATCAGCCTATGTTGAGAGCTGCCCAGTGTGTGGCCCTTCTGCCTGGAAGGGGTGGCTGGGCCTGGCTGTGCATCACT... |
Task1_train_31727 | This variant lies on Chromosome X and affects the gene G6PD (glucose-6-phosphate dehydrogenase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | CTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGAAGGACCCTCCCCTTGGGCCTCTGGCGGGAGTGCTGGATCTTGGACTCTGGCCTCCAGAACTGGGAGAATCAGCCTATGTTGAGAGCTGCCCAGTGTGTGGCCCTTCTGCCTGGAAGGGGTGGCTGGGCCTGGCTGTGCATCACTGTGGACTGTCCCCTCTCCCTTGGCCTCTGACATCAGTCACAAAAC... | CTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGAAGGACCCTCCCCTTGGGCCTCTGGCGGGAGTGCTGGATCTTGGACTCTGGCCTCCAGAACTGGGAGAATCAGCCTATGTTGAGAGCTGCCCAGTGTGTGGCCCTTCTGCCTGGAAGGGGTGGCTGGGCCTGGCTGTGCATCACTGTGGACTGTCCCCTCTCCCTTGGCCTCTGACATCAGTCACAAAAC... |
Task1_train_31728 | The gene G6PD (glucose-6-phosphate dehydrogenase) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; G6PD deficiency | CTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGAAGGACCCTCCCCTTGGGCCTCTGGCGGGAGTGCTGGATCTTGGACTCTGGCCTCCAGAACTGGGAGAATCAGCCTATGTTGAGAGCTGCCCAGTGTGTGGCCCTTCTGCCTGGAAGGGGTGGCTGGGCCTGGCTGTGCATCACTGTGGACTGTCCCCTCTCCCTTGGCCTCTGACATCAGTCACAAAAC... | CTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGAAGGACCCTCCCCTTGGGCCTCTGGCGGGAGTGCTGGATCTTGGACTCTGGCCTCCAGAACTGGGAGAATCAGCCTATGTTGAGAGCTGCCCAGTGTGTGGCCCTTCTGCCTGGAAGGGGTGGCTGGGCCTGGCTGTGCATCACTGTGGACTGTCCCCTCTCCCTTGGCCTCTGACATCAGTCACAAAAC... |
Task1_train_31729 | A genetic alteration is present in G6PD (glucose-6-phosphate dehydrogenase) on Chromosome X. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | GGAGAATCAGCCTATGTTGAGAGCTGCCCAGTGTGTGGCCCTTCTGCCTGGAAGGGGTGGCTGGGCCTGGCTGTGCATCACTGTGGACTGTCCCCTCTCCCTTGGCCTCTGACATCAGTCACAAAACCCATCCCCTCTCCTTCCTAAATACTTCTGTGGACTGGCAGTGTTGCTGGAAGTCATCTTGGGTGGGGCAGGGACATGGACAGTAAGAGCGGAAGGTGACCCCACATCCTTGCACCTCAAGCTGGTCTCACAATGACAATATGCGTGGAGCGGAGGAGGACTCAGGAGGTGTCTCTGACACCAAACATGGTCAT... | GGAGAATCAGCCTATGTTGAGAGCTGCCCAGTGTGTGGCCCTTCTGCCTGGAAGGGGTGGCTGGGCCTGGCTGTGCATCACTGTGGACTGTCCCCTCTCCCTTGGCCTCTGACATCAGTCACAAAACCCATCCCCTCTCCTTCCTAAATACTTCTGTGGACTGGCAGTGTTGCTGGAAGTCATCTTGGGTGGGGCAGGGACATGGACAGTAAGAGCGGAAGGTGACCCCACATCCTTGCACCTCAAGCTGGTCTCACAATGACAATATGCGTGGAGCGGAGGAGGACTCAGGAGGTGTCTCTGACACCAAACATGGTCAT... |
Task1_train_31730 | The following genetic variant occurs in G6PD (glucose-6-phosphate dehydrogenase) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Malaria, susceptibility to | GGAGAATCAGCCTATGTTGAGAGCTGCCCAGTGTGTGGCCCTTCTGCCTGGAAGGGGTGGCTGGGCCTGGCTGTGCATCACTGTGGACTGTCCCCTCTCCCTTGGCCTCTGACATCAGTCACAAAACCCATCCCCTCTCCTTCCTAAATACTTCTGTGGACTGGCAGTGTTGCTGGAAGTCATCTTGGGTGGGGCAGGGACATGGACAGTAAGAGCGGAAGGTGACCCCACATCCTTGCACCTCAAGCTGGTCTCACAATGACAATATGCGTGGAGCGGAGGAGGACTCAGGAGGTGTCTCTGACACCAAACATGGTCAT... | GGAGAATCAGCCTATGTTGAGAGCTGCCCAGTGTGTGGCCCTTCTGCCTGGAAGGGGTGGCTGGGCCTGGCTGTGCATCACTGTGGACTGTCCCCTCTCCCTTGGCCTCTGACATCAGTCACAAAACCCATCCCCTCTCCTTCCTAAATACTTCTGTGGACTGGCAGTGTTGCTGGAAGTCATCTTGGGTGGGGCAGGGACATGGACAGTAAGAGCGGAAGGTGACCCCACATCCTTGCACCTCAAGCTGGTCTCACAATGACAATATGCGTGGAGCGGAGGAGGACTCAGGAGGTGTCTCTGACACCAAACATGGTCAT... |
Task1_train_31731 | This alteration in G6PD (glucose-6-phosphate dehydrogenase) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | GGAGAATCAGCCTATGTTGAGAGCTGCCCAGTGTGTGGCCCTTCTGCCTGGAAGGGGTGGCTGGGCCTGGCTGTGCATCACTGTGGACTGTCCCCTCTCCCTTGGCCTCTGACATCAGTCACAAAACCCATCCCCTCTCCTTCCTAAATACTTCTGTGGACTGGCAGTGTTGCTGGAAGTCATCTTGGGTGGGGCAGGGACATGGACAGTAAGAGCGGAAGGTGACCCCACATCCTTGCACCTCAAGCTGGTCTCACAATGACAATATGCGTGGAGCGGAGGAGGACTCAGGAGGTGTCTCTGACACCAAACATGGTCAT... | GGAGAATCAGCCTATGTTGAGAGCTGCCCAGTGTGTGGCCCTTCTGCCTGGAAGGGGTGGCTGGGCCTGGCTGTGCATCACTGTGGACTGTCCCCTCTCCCTTGGCCTCTGACATCAGTCACAAAACCCATCCCCTCTCCTTCCTAAATACTTCTGTGGACTGGCAGTGTTGCTGGAAGTCATCTTGGGTGGGGCAGGGACATGGACAGTAAGAGCGGAAGGTGACCCCACATCCTTGCACCTCAAGCTGGTCTCACAATGACAATATGCGTGGAGCGGAGGAGGACTCAGGAGGTGTCTCTGACACCAAACATGGTCAT... |
Task1_train_31732 | Assess the clinical impact of this variant on gene G6PD (glucose-6-phosphate dehydrogenase), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Inborn genetic diseases | GGAGAATCAGCCTATGTTGAGAGCTGCCCAGTGTGTGGCCCTTCTGCCTGGAAGGGGTGGCTGGGCCTGGCTGTGCATCACTGTGGACTGTCCCCTCTCCCTTGGCCTCTGACATCAGTCACAAAACCCATCCCCTCTCCTTCCTAAATACTTCTGTGGACTGGCAGTGTTGCTGGAAGTCATCTTGGGTGGGGCAGGGACATGGACAGTAAGAGCGGAAGGTGACCCCACATCCTTGCACCTCAAGCTGGTCTCACAATGACAATATGCGTGGAGCGGAGGAGGACTCAGGAGGTGTCTCTGACACCAAACATGGTCAT... | GGAGAATCAGCCTATGTTGAGAGCTGCCCAGTGTGTGGCCCTTCTGCCTGGAAGGGGTGGCTGGGCCTGGCTGTGCATCACTGTGGACTGTCCCCTCTCCCTTGGCCTCTGACATCAGTCACAAAACCCATCCCCTCTCCTTCCTAAATACTTCTGTGGACTGGCAGTGTTGCTGGAAGTCATCTTGGGTGGGGCAGGGACATGGACAGTAAGAGCGGAAGGTGACCCCACATCCTTGCACCTCAAGCTGGTCTCACAATGACAATATGCGTGGAGCGGAGGAGGACTCAGGAGGTGTCTCTGACACCAAACATGGTCAT... |
Task1_train_31733 | The gene G6PD (glucose-6-phosphate dehydrogenase) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Malaria, susceptibility to | GGAGAATCAGCCTATGTTGAGAGCTGCCCAGTGTGTGGCCCTTCTGCCTGGAAGGGGTGGCTGGGCCTGGCTGTGCATCACTGTGGACTGTCCCCTCTCCCTTGGCCTCTGACATCAGTCACAAAACCCATCCCCTCTCCTTCCTAAATACTTCTGTGGACTGGCAGTGTTGCTGGAAGTCATCTTGGGTGGGGCAGGGACATGGACAGTAAGAGCGGAAGGTGACCCCACATCCTTGCACCTCAAGCTGGTCTCACAATGACAATATGCGTGGAGCGGAGGAGGACTCAGGAGGTGTCTCTGACACCAAACATGGTCAT... | GGAGAATCAGCCTATGTTGAGAGCTGCCCAGTGTGTGGCCCTTCTGCCTGGAAGGGGTGGCTGGGCCTGGCTGTGCATCACTGTGGACTGTCCCCTCTCCCTTGGCCTCTGACATCAGTCACAAAACCCATCCCCTCTCCTTCCTAAATACTTCTGTGGACTGGCAGTGTTGCTGGAAGTCATCTTGGGTGGGGCAGGGACATGGACAGTAAGAGCGGAAGGTGACCCCACATCCTTGCACCTCAAGCTGGTCTCACAATGACAATATGCGTGGAGCGGAGGAGGACTCAGGAGGTGTCTCTGACACCAAACATGGTCAT... |
Task1_train_31734 | Given a variant located on Chromosome X and affecting G6PD (glucose-6-phosphate dehydrogenase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | GGGTGGCTGGGCCTGGCTGTGCATCACTGTGGACTGTCCCCTCTCCCTTGGCCTCTGACATCAGTCACAAAACCCATCCCCTCTCCTTCCTAAATACTTCTGTGGACTGGCAGTGTTGCTGGAAGTCATCTTGGGTGGGGCAGGGACATGGACAGTAAGAGCGGAAGGTGACCCCACATCCTTGCACCTCAAGCTGGTCTCACAATGACAATATGCGTGGAGCGGAGGAGGACTCAGGAGGTGTCTCTGACACCAAACATGGTCATGGCTGGACATGGGGTCAGAACCAGAAGTGAGGAGGCTCCTCAGTGGCCACAGAG... | GGGTGGCTGGGCCTGGCTGTGCATCACTGTGGACTGTCCCCTCTCCCTTGGCCTCTGACATCAGTCACAAAACCCATCCCCTCTCCTTCCTAAATACTTCTGTGGACTGGCAGTGTTGCTGGAAGTCATCTTGGGTGGGGCAGGGACATGGACAGTAAGAGCGGAAGGTGACCCCACATCCTTGCACCTCAAGCTGGTCTCACAATGACAATATGCGTGGAGCGGAGGAGGACTCAGGAGGTGTCTCTGACACCAAACATGGTCATGGCTGGACATGGGGTCAGAACCAGAAGTGAGGAGGCTCCTCAGTGGCCACAGAG... |
Task1_train_31735 | A variant on Chromosome X in gene G6PD (glucose-6-phosphate dehydrogenase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Malaria, susceptibility to | GGGTGGCTGGGCCTGGCTGTGCATCACTGTGGACTGTCCCCTCTCCCTTGGCCTCTGACATCAGTCACAAAACCCATCCCCTCTCCTTCCTAAATACTTCTGTGGACTGGCAGTGTTGCTGGAAGTCATCTTGGGTGGGGCAGGGACATGGACAGTAAGAGCGGAAGGTGACCCCACATCCTTGCACCTCAAGCTGGTCTCACAATGACAATATGCGTGGAGCGGAGGAGGACTCAGGAGGTGTCTCTGACACCAAACATGGTCATGGCTGGACATGGGGTCAGAACCAGAAGTGAGGAGGCTCCTCAGTGGCCACAGAG... | GGGTGGCTGGGCCTGGCTGTGCATCACTGTGGACTGTCCCCTCTCCCTTGGCCTCTGACATCAGTCACAAAACCCATCCCCTCTCCTTCCTAAATACTTCTGTGGACTGGCAGTGTTGCTGGAAGTCATCTTGGGTGGGGCAGGGACATGGACAGTAAGAGCGGAAGGTGACCCCACATCCTTGCACCTCAAGCTGGTCTCACAATGACAATATGCGTGGAGCGGAGGAGGACTCAGGAGGTGTCTCTGACACCAAACATGGTCATGGCTGGACATGGGGTCAGAACCAGAAGTGAGGAGGCTCCTCAGTGGCCACAGAG... |
Task1_train_31736 | The variant affects gene G6PD (glucose-6-phosphate dehydrogenase), which is on Chromosome X. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; G6PD deficiency | GGGTGGCTGGGCCTGGCTGTGCATCACTGTGGACTGTCCCCTCTCCCTTGGCCTCTGACATCAGTCACAAAACCCATCCCCTCTCCTTCCTAAATACTTCTGTGGACTGGCAGTGTTGCTGGAAGTCATCTTGGGTGGGGCAGGGACATGGACAGTAAGAGCGGAAGGTGACCCCACATCCTTGCACCTCAAGCTGGTCTCACAATGACAATATGCGTGGAGCGGAGGAGGACTCAGGAGGTGTCTCTGACACCAAACATGGTCATGGCTGGACATGGGGTCAGAACCAGAAGTGAGGAGGCTCCTCAGTGGCCACAGAG... | GGGTGGCTGGGCCTGGCTGTGCATCACTGTGGACTGTCCCCTCTCCCTTGGCCTCTGACATCAGTCACAAAACCCATCCCCTCTCCTTCCTAAATACTTCTGTGGACTGGCAGTGTTGCTGGAAGTCATCTTGGGTGGGGCAGGGACATGGACAGTAAGAGCGGAAGGTGACCCCACATCCTTGCACCTCAAGCTGGTCTCACAATGACAATATGCGTGGAGCGGAGGAGGACTCAGGAGGTGTCTCTGACACCAAACATGGTCATGGCTGGACATGGGGTCAGAACCAGAAGTGAGGAGGCTCCTCAGTGGCCACAGAG... |
Task1_train_31737 | A variant was discovered in gene G6PD (glucose-6-phosphate dehydrogenase), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Malaria, susceptibility to | GGGTGGCTGGGCCTGGCTGTGCATCACTGTGGACTGTCCCCTCTCCCTTGGCCTCTGACATCAGTCACAAAACCCATCCCCTCTCCTTCCTAAATACTTCTGTGGACTGGCAGTGTTGCTGGAAGTCATCTTGGGTGGGGCAGGGACATGGACAGTAAGAGCGGAAGGTGACCCCACATCCTTGCACCTCAAGCTGGTCTCACAATGACAATATGCGTGGAGCGGAGGAGGACTCAGGAGGTGTCTCTGACACCAAACATGGTCATGGCTGGACATGGGGTCAGAACCAGAAGTGAGGAGGCTCCTCAGTGGCCACAGAG... | GGGTGGCTGGGCCTGGCTGTGCATCACTGTGGACTGTCCCCTCTCCCTTGGCCTCTGACATCAGTCACAAAACCCATCCCCTCTCCTTCCTAAATACTTCTGTGGACTGGCAGTGTTGCTGGAAGTCATCTTGGGTGGGGCAGGGACATGGACAGTAAGAGCGGAAGGTGACCCCACATCCTTGCACCTCAAGCTGGTCTCACAATGACAATATGCGTGGAGCGGAGGAGGACTCAGGAGGTGTCTCTGACACCAAACATGGTCATGGCTGGACATGGGGTCAGAACCAGAAGTGAGGAGGCTCCTCAGTGGCCACAGAG... |
Task1_train_31738 | The gene G6PD (glucose-6-phosphate dehydrogenase) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | GGGTGGCTGGGCCTGGCTGTGCATCACTGTGGACTGTCCCCTCTCCCTTGGCCTCTGACATCAGTCACAAAACCCATCCCCTCTCCTTCCTAAATACTTCTGTGGACTGGCAGTGTTGCTGGAAGTCATCTTGGGTGGGGCAGGGACATGGACAGTAAGAGCGGAAGGTGACCCCACATCCTTGCACCTCAAGCTGGTCTCACAATGACAATATGCGTGGAGCGGAGGAGGACTCAGGAGGTGTCTCTGACACCAAACATGGTCATGGCTGGACATGGGGTCAGAACCAGAAGTGAGGAGGCTCCTCAGTGGCCACAGAG... | GGGTGGCTGGGCCTGGCTGTGCATCACTGTGGACTGTCCCCTCTCCCTTGGCCTCTGACATCAGTCACAAAACCCATCCCCTCTCCTTCCTAAATACTTCTGTGGACTGGCAGTGTTGCTGGAAGTCATCTTGGGTGGGGCAGGGACATGGACAGTAAGAGCGGAAGGTGACCCCACATCCTTGCACCTCAAGCTGGTCTCACAATGACAATATGCGTGGAGCGGAGGAGGACTCAGGAGGTGTCTCTGACACCAAACATGGTCATGGCTGGACATGGGGTCAGAACCAGAAGTGAGGAGGCTCCTCAGTGGCCACAGAG... |
Task1_train_31739 | Here’s a variant in G6PD (glucose-6-phosphate dehydrogenase) located on Chromosome X. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | CTGTCCCCTCTCCCTTGGCCTCTGACATCAGTCACAAAACCCATCCCCTCTCCTTCCTAAATACTTCTGTGGACTGGCAGTGTTGCTGGAAGTCATCTTGGGTGGGGCAGGGACATGGACAGTAAGAGCGGAAGGTGACCCCACATCCTTGCACCTCAAGCTGGTCTCACAATGACAATATGCGTGGAGCGGAGGAGGACTCAGGAGGTGTCTCTGACACCAAACATGGTCATGGCTGGACATGGGGTCAGAACCAGAAGTGAGGAGGCTCCTCAGTGGCCACAGAGGAAGCACCCGGGTGACTTGGGGAGTGGGACAAG... | CTGTCCCCTCTCCCTTGGCCTCTGACATCAGTCACAAAACCCATCCCCTCTCCTTCCTAAATACTTCTGTGGACTGGCAGTGTTGCTGGAAGTCATCTTGGGTGGGGCAGGGACATGGACAGTAAGAGCGGAAGGTGACCCCACATCCTTGCACCTCAAGCTGGTCTCACAATGACAATATGCGTGGAGCGGAGGAGGACTCAGGAGGTGTCTCTGACACCAAACATGGTCATGGCTGGACATGGGGTCAGAACCAGAAGTGAGGAGGCTCCTCAGTGGCCACAGAGGAAGCACCCGGGTGACTTGGGGAGTGGGACAAG... |
Task1_train_31740 | A variant found in Chromosome X affects G6PD (glucose-6-phosphate dehydrogenase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | GATGTTGCTGGTGACAAGGAATGTCAAGTGGCACTGAGGCTGGCGGGCAAGGCCACAGGCAGATTCTCTCACGTGGGTGCTCGCCCCTTTCCTCCCCCTCGTCCCTCCCTCCCACCCTGGCCCCACTCAGGAGTGAGACCCAGTGGCCAATAAGCTCTGGGACAGACGAATGGGCGCCCTCCTCCTTCCTTCTGTTGGGCTGGAGTGAGTGGAGGAGGTGACTCAGCTCCTGGGCTCAGGCAGGGTCTGGAGGGGCCAGGATGGTCTCGAGTGCTTGGCAGCTGAGGAATGTAGCTGGGCTCGGGTAGTAGCAGCAGCGA... | GATGTTGCTGGTGACAAGGAATGTCAAGTGGCACTGAGGCTGGCGGGCAAGGCCACAGGCAGATTCTCTCACGTGGGTGCTCGCCCCTTTCCTCCCCCTCGTCCCTCCCTCCCACCCTGGCCCCACTCAGGAGTGAGACCCAGTGGCCAATAAGCTCTGGGACAGACGAATGGGCGCCCTCCTCCTTCCTTCTGTTGGGCTGGAGTGAGTGGAGGAGGTGACTCAGCTCCTGGGCTCAGGCAGGGTCTGGAGGGGCCAGGATGGTCTCGAGTGCTTGGCAGCTGAGGAATGTAGCTGGGCTCGGGTAGTAGCAGCAGCGA... |
Task1_train_31741 | A sequence alteration has been identified in G6PD (glucose-6-phosphate dehydrogenase) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | GATGTTGCTGGTGACAAGGAATGTCAAGTGGCACTGAGGCTGGCGGGCAAGGCCACAGGCAGATTCTCTCACGTGGGTGCTCGCCCCTTTCCTCCCCCTCGTCCCTCCCTCCCACCCTGGCCCCACTCAGGAGTGAGACCCAGTGGCCAATAAGCTCTGGGACAGACGAATGGGCGCCCTCCTCCTTCCTTCTGTTGGGCTGGAGTGAGTGGAGGAGGTGACTCAGCTCCTGGGCTCAGGCAGGGTCTGGAGGGGCCAGGATGGTCTCGAGTGCTTGGCAGCTGAGGAATGTAGCTGGGCTCGGGTAGTAGCAGCAGCGA... | GATGTTGCTGGTGACAAGGAATGTCAAGTGGCACTGAGGCTGGCGGGCAAGGCCACAGGCAGATTCTCTCACGTGGGTGCTCGCCCCTTTCCTCCCCCTCGTCCCTCCCTCCCACCCTGGCCCCACTCAGGAGTGAGACCCAGTGGCCAATAAGCTCTGGGACAGACGAATGGGCGCCCTCCTCCTTCCTTCTGTTGGGCTGGAGTGAGTGGAGGAGGTGACTCAGCTCCTGGGCTCAGGCAGGGTCTGGAGGGGCCAGGATGGTCTCGAGTGCTTGGCAGCTGAGGAATGTAGCTGGGCTCGGGTAGTAGCAGCAGCGA... |
Task1_train_31742 | A genomic change on Chromosome X affects G6PD (glucose-6-phosphate dehydrogenase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | TGTCAAGTGGCACTGAGGCTGGCGGGCAAGGCCACAGGCAGATTCTCTCACGTGGGTGCTCGCCCCTTTCCTCCCCCTCGTCCCTCCCTCCCACCCTGGCCCCACTCAGGAGTGAGACCCAGTGGCCAATAAGCTCTGGGACAGACGAATGGGCGCCCTCCTCCTTCCTTCTGTTGGGCTGGAGTGAGTGGAGGAGGTGACTCAGCTCCTGGGCTCAGGCAGGGTCTGGAGGGGCCAGGATGGTCTCGAGTGCTTGGCAGCTGAGGAATGTAGCTGGGCTCGGGTAGTAGCAGCAGCGAGGGGCGGGCCAGGGTGGCCAG... | TGTCAAGTGGCACTGAGGCTGGCGGGCAAGGCCACAGGCAGATTCTCTCACGTGGGTGCTCGCCCCTTTCCTCCCCCTCGTCCCTCCCTCCCACCCTGGCCCCACTCAGGAGTGAGACCCAGTGGCCAATAAGCTCTGGGACAGACGAATGGGCGCCCTCCTCCTTCCTTCTGTTGGGCTGGAGTGAGTGGAGGAGGTGACTCAGCTCCTGGGCTCAGGCAGGGTCTGGAGGGGCCAGGATGGTCTCGAGTGCTTGGCAGCTGAGGAATGTAGCTGGGCTCGGGTAGTAGCAGCAGCGAGGGGCGGGCCAGGGTGGCCAG... |
Task1_train_31743 | The gene G6PD (glucose-6-phosphate dehydrogenase) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | GGGTGCCCAGGGCTCAGAGCTTGTGGGGGTTCACCCACTTGTAGGTGCCCTCATACTGGAAACCCACTCTCTTCATCAGCTCGTCTGCCTCCGTGGGGCCTCGGCTGGAGAGTGACGGGTGGAGGAGAGGCATGAGGTAGCTCCACCCTCACCCCGCCCCTGCCCGCTGGGCTCTGTCCCCAGCCCCCACCCTTTCCTCACCTGCCATAAATATAGGGGATGGGCTTGGGCTTCTCCAGCTCAATCTGGTGCAGCAGTGGGGTGAAAATACGCCAGGCCTCACGGAGCTCGTCGCTGAGGGGACATGGTATGGCTTGGGA... | GGGTGCCCAGGGCTCAGAGCTTGTGGGGGTTCACCCACTTGTAGGTGCCCTCATACTGGAAACCCACTCTCTTCATCAGCTCGTCTGCCTCCGTGGGGCCTCGGCTGGAGAGTGACGGGTGGAGGAGAGGCATGAGGTAGCTCCACCCTCACCCCGCCCCTGCCCGCTGGGCTCTGTCCCCAGCCCCCACCCTTTCCTCACCTGCCATAAATATAGGGGATGGGCTTGGGCTTCTCCAGCTCAATCTGGTGCAGCAGTGGGGTGAAAATACGCCAGGCCTCACGGAGCTCGTCGCTGAGGGGACATGGTATGGCTTGGGA... |
Task1_train_31744 | A variant found in Chromosome X affects G6PD (glucose-6-phosphate dehydrogenase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | GGAAACCCACTCTCTTCATCAGCTCGTCTGCCTCCGTGGGGCCTCGGCTGGAGAGTGACGGGTGGAGGAGAGGCATGAGGTAGCTCCACCCTCACCCCGCCCCTGCCCGCTGGGCTCTGTCCCCAGCCCCCACCCTTTCCTCACCTGCCATAAATATAGGGGATGGGCTTGGGCTTCTCCAGCTCAATCTGGTGCAGCAGTGGGGTGAAAATACGCCAGGCCTCACGGAGCTCGTCGCTGAGGGGACATGGTATGGCTTGGGAGGCCGGTGGCACACAGGGAGGGAGGGCAAAGGCCACCCCATAGCCCACAGGTATGCA... | GGAAACCCACTCTCTTCATCAGCTCGTCTGCCTCCGTGGGGCCTCGGCTGGAGAGTGACGGGTGGAGGAGAGGCATGAGGTAGCTCCACCCTCACCCCGCCCCTGCCCGCTGGGCTCTGTCCCCAGCCCCCACCCTTTCCTCACCTGCCATAAATATAGGGGATGGGCTTGGGCTTCTCCAGCTCAATCTGGTGCAGCAGTGGGGTGAAAATACGCCAGGCCTCACGGAGCTCGTCGCTGAGGGGACATGGTATGGCTTGGGAGGCCGGTGGCACACAGGGAGGGAGGGCAAAGGCCACCCCATAGCCCACAGGTATGCA... |
Task1_train_31745 | Assess the clinical impact of this variant on gene G6PD (glucose-6-phosphate dehydrogenase), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; G6PD deficiency | CCGTGGGGCCTCGGCTGGAGAGTGACGGGTGGAGGAGAGGCATGAGGTAGCTCCACCCTCACCCCGCCCCTGCCCGCTGGGCTCTGTCCCCAGCCCCCACCCTTTCCTCACCTGCCATAAATATAGGGGATGGGCTTGGGCTTCTCCAGCTCAATCTGGTGCAGCAGTGGGGTGAAAATACGCCAGGCCTCACGGAGCTCGTCGCTGAGGGGACATGGTATGGCTTGGGAGGCCGGTGGCACACAGGGAGGGAGGGCAAAGGCCACCCCATAGCCCACAGGTATGCAGGGGCCGGCAGCTGGGCCTCACCTGCGCACGAA... | CCGTGGGGCCTCGGCTGGAGAGTGACGGGTGGAGGAGAGGCATGAGGTAGCTCCACCCTCACCCCGCCCCTGCCCGCTGGGCTCTGTCCCCAGCCCCCACCCTTTCCTCACCTGCCATAAATATAGGGGATGGGCTTGGGCTTCTCCAGCTCAATCTGGTGCAGCAGTGGGGTGAAAATACGCCAGGCCTCACGGAGCTCGTCGCTGAGGGGACATGGTATGGCTTGGGAGGCCGGTGGCACACAGGGAGGGAGGGCAAAGGCCACCCCATAGCCCACAGGTATGCAGGGGCCGGCAGCTGGGCCTCACCTGCGCACGAA... |
Task1_train_31746 | This variant affects gene G6PD (glucose-6-phosphate dehydrogenase) located on Chromosome X. Evaluate its biological effect and specify any disease association. | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | CGTGGGGCCTCGGCTGGAGAGTGACGGGTGGAGGAGAGGCATGAGGTAGCTCCACCCTCACCCCGCCCCTGCCCGCTGGGCTCTGTCCCCAGCCCCCACCCTTTCCTCACCTGCCATAAATATAGGGGATGGGCTTGGGCTTCTCCAGCTCAATCTGGTGCAGCAGTGGGGTGAAAATACGCCAGGCCTCACGGAGCTCGTCGCTGAGGGGACATGGTATGGCTTGGGAGGCCGGTGGCACACAGGGAGGGAGGGCAAAGGCCACCCCATAGCCCACAGGTATGCAGGGGCCGGCAGCTGGGCCTCACCTGCGCACGAAG... | CGTGGGGCCTCGGCTGGAGAGTGACGGGTGGAGGAGAGGCATGAGGTAGCTCCACCCTCACCCCGCCCCTGCCCGCTGGGCTCTGTCCCCAGCCCCCACCCTTTCCTCACCTGCCATAAATATAGGGGATGGGCTTGGGCTTCTCCAGCTCAATCTGGTGCAGCAGTGGGGTGAAAATACGCCAGGCCTCACGGAGCTCGTCGCTGAGGGGACATGGTATGGCTTGGGAGGCCGGTGGCACACAGGGAGGGAGGGCAAAGGCCACCCCATAGCCCACAGGTATGCAGGGGCCGGCAGCTGGGCCTCACCTGCGCACGAAG... |
Task1_train_31747 | This mutation occurs in G6PD (glucose-6-phosphate dehydrogenase) on Chromosome X. Does this change lead to a known medical condition, or is it benign? | Pathogenic; G6PD deficiency | CGTGGGGCCTCGGCTGGAGAGTGACGGGTGGAGGAGAGGCATGAGGTAGCTCCACCCTCACCCCGCCCCTGCCCGCTGGGCTCTGTCCCCAGCCCCCACCCTTTCCTCACCTGCCATAAATATAGGGGATGGGCTTGGGCTTCTCCAGCTCAATCTGGTGCAGCAGTGGGGTGAAAATACGCCAGGCCTCACGGAGCTCGTCGCTGAGGGGACATGGTATGGCTTGGGAGGCCGGTGGCACACAGGGAGGGAGGGCAAAGGCCACCCCATAGCCCACAGGTATGCAGGGGCCGGCAGCTGGGCCTCACCTGCGCACGAAG... | CGTGGGGCCTCGGCTGGAGAGTGACGGGTGGAGGAGAGGCATGAGGTAGCTCCACCCTCACCCCGCCCCTGCCCGCTGGGCTCTGTCCCCAGCCCCCACCCTTTCCTCACCTGCCATAAATATAGGGGATGGGCTTGGGCTTCTCCAGCTCAATCTGGTGCAGCAGTGGGGTGAAAATACGCCAGGCCTCACGGAGCTCGTCGCTGAGGGGACATGGTATGGCTTGGGAGGCCGGTGGCACACAGGGAGGGAGGGCAAAGGCCACCCCATAGCCCACAGGTATGCAGGGGCCGGCAGCTGGGCCTCACCTGCGCACGAAG... |
Task1_train_31748 | A sequence alteration has been identified in G6PD (glucose-6-phosphate dehydrogenase) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | ACCCCATAGCCCACAGGTATGCAGGGGCCGGCAGCTGGGCCTCACCTGCGCACGAAGTGCATCTGGCTCCCGCAGAAGACGTCCAGGATGAGGCGCTCATAGGCGTCAGGGAGCTTCACGTTCTGTGAGGGAGAGAGTGTCTTGCTGATGCCACTGCCTGCCACCATGTGGAGTCCCCCGGGCCCAGGCCGCCCACCCTCCACACTGCTCCTTCTCTGTAGGGCACCTTGTATCTGTTGCCGTAGGTCAGGTCCAGCTCCGACTCCTCGGGGTTGAAGAACATGCCCGGCTTCTTGGTCATCATCTTGGTGTACACGGCC... | ACCCCATAGCCCACAGGTATGCAGGGGCCGGCAGCTGGGCCTCACCTGCGCACGAAGTGCATCTGGCTCCCGCAGAAGACGTCCAGGATGAGGCGCTCATAGGCGTCAGGGAGCTTCACGTTCTGTGAGGGAGAGAGTGTCTTGCTGATGCCACTGCCTGCCACCATGTGGAGTCCCCCGGGCCCAGGCCGCCCACCCTCCACACTGCTCCTTCTCTGTAGGGCACCTTGTATCTGTTGCCGTAGGTCAGGTCCAGCTCCGACTCCTCGGGGTTGAAGAACATGCCCGGCTTCTTGGTCATCATCTTGGTGTACACGGCC... |
Task1_train_31749 | A variant has been detected on Chromosome X in G6PD (glucose-6-phosphate dehydrogenase). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Malaria, susceptibility to | ACCCCATAGCCCACAGGTATGCAGGGGCCGGCAGCTGGGCCTCACCTGCGCACGAAGTGCATCTGGCTCCCGCAGAAGACGTCCAGGATGAGGCGCTCATAGGCGTCAGGGAGCTTCACGTTCTGTGAGGGAGAGAGTGTCTTGCTGATGCCACTGCCTGCCACCATGTGGAGTCCCCCGGGCCCAGGCCGCCCACCCTCCACACTGCTCCTTCTCTGTAGGGCACCTTGTATCTGTTGCCGTAGGTCAGGTCCAGCTCCGACTCCTCGGGGTTGAAGAACATGCCCGGCTTCTTGGTCATCATCTTGGTGTACACGGCC... | ACCCCATAGCCCACAGGTATGCAGGGGCCGGCAGCTGGGCCTCACCTGCGCACGAAGTGCATCTGGCTCCCGCAGAAGACGTCCAGGATGAGGCGCTCATAGGCGTCAGGGAGCTTCACGTTCTGTGAGGGAGAGAGTGTCTTGCTGATGCCACTGCCTGCCACCATGTGGAGTCCCCCGGGCCCAGGCCGCCCACCCTCCACACTGCTCCTTCTCTGTAGGGCACCTTGTATCTGTTGCCGTAGGTCAGGTCCAGCTCCGACTCCTCGGGGTTGAAGAACATGCCCGGCTTCTTGGTCATCATCTTGGTGTACACGGCC... |
Task1_train_31750 | This is a variant in G6PD (glucose-6-phosphate dehydrogenase), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | CCCCATAGCCCACAGGTATGCAGGGGCCGGCAGCTGGGCCTCACCTGCGCACGAAGTGCATCTGGCTCCCGCAGAAGACGTCCAGGATGAGGCGCTCATAGGCGTCAGGGAGCTTCACGTTCTGTGAGGGAGAGAGTGTCTTGCTGATGCCACTGCCTGCCACCATGTGGAGTCCCCCGGGCCCAGGCCGCCCACCCTCCACACTGCTCCTTCTCTGTAGGGCACCTTGTATCTGTTGCCGTAGGTCAGGTCCAGCTCCGACTCCTCGGGGTTGAAGAACATGCCCGGCTTCTTGGTCATCATCTTGGTGTACACGGCCT... | CCCCATAGCCCACAGGTATGCAGGGGCCGGCAGCTGGGCCTCACCTGCGCACGAAGTGCATCTGGCTCCCGCAGAAGACGTCCAGGATGAGGCGCTCATAGGCGTCAGGGAGCTTCACGTTCTGTGAGGGAGAGAGTGTCTTGCTGATGCCACTGCCTGCCACCATGTGGAGTCCCCCGGGCCCAGGCCGCCCACCCTCCACACTGCTCCTTCTCTGTAGGGCACCTTGTATCTGTTGCCGTAGGTCAGGTCCAGCTCCGACTCCTCGGGGTTGAAGAACATGCCCGGCTTCTTGGTCATCATCTTGGTGTACACGGCCT... |
Task1_train_31751 | A variant has been detected on Chromosome X in G6PD (glucose-6-phosphate dehydrogenase). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Malaria, susceptibility to | CCCCATAGCCCACAGGTATGCAGGGGCCGGCAGCTGGGCCTCACCTGCGCACGAAGTGCATCTGGCTCCCGCAGAAGACGTCCAGGATGAGGCGCTCATAGGCGTCAGGGAGCTTCACGTTCTGTGAGGGAGAGAGTGTCTTGCTGATGCCACTGCCTGCCACCATGTGGAGTCCCCCGGGCCCAGGCCGCCCACCCTCCACACTGCTCCTTCTCTGTAGGGCACCTTGTATCTGTTGCCGTAGGTCAGGTCCAGCTCCGACTCCTCGGGGTTGAAGAACATGCCCGGCTTCTTGGTCATCATCTTGGTGTACACGGCCT... | CCCCATAGCCCACAGGTATGCAGGGGCCGGCAGCTGGGCCTCACCTGCGCACGAAGTGCATCTGGCTCCCGCAGAAGACGTCCAGGATGAGGCGCTCATAGGCGTCAGGGAGCTTCACGTTCTGTGAGGGAGAGAGTGTCTTGCTGATGCCACTGCCTGCCACCATGTGGAGTCCCCCGGGCCCAGGCCGCCCACCCTCCACACTGCTCCTTCTCTGTAGGGCACCTTGTATCTGTTGCCGTAGGTCAGGTCCAGCTCCGACTCCTCGGGGTTGAAGAACATGCCCGGCTTCTTGGTCATCATCTTGGTGTACACGGCCT... |
Task1_train_31752 | The variant affects gene G6PD (glucose-6-phosphate dehydrogenase), which is on Chromosome X. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | CCCCATAGCCCACAGGTATGCAGGGGCCGGCAGCTGGGCCTCACCTGCGCACGAAGTGCATCTGGCTCCCGCAGAAGACGTCCAGGATGAGGCGCTCATAGGCGTCAGGGAGCTTCACGTTCTGTGAGGGAGAGAGTGTCTTGCTGATGCCACTGCCTGCCACCATGTGGAGTCCCCCGGGCCCAGGCCGCCCACCCTCCACACTGCTCCTTCTCTGTAGGGCACCTTGTATCTGTTGCCGTAGGTCAGGTCCAGCTCCGACTCCTCGGGGTTGAAGAACATGCCCGGCTTCTTGGTCATCATCTTGGTGTACACGGCCT... | CCCCATAGCCCACAGGTATGCAGGGGCCGGCAGCTGGGCCTCACCTGCGCACGAAGTGCATCTGGCTCCCGCAGAAGACGTCCAGGATGAGGCGCTCATAGGCGTCAGGGAGCTTCACGTTCTGTGAGGGAGAGAGTGTCTTGCTGATGCCACTGCCTGCCACCATGTGGAGTCCCCCGGGCCCAGGCCGCCCACCCTCCACACTGCTCCTTCTCTGTAGGGCACCTTGTATCTGTTGCCGTAGGTCAGGTCCAGCTCCGACTCCTCGGGGTTGAAGAACATGCCCGGCTTCTTGGTCATCATCTTGGTGTACACGGCCT... |
Task1_train_31753 | With a mutation on Chromosome X in gene G6PD (glucose-6-phosphate dehydrogenase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Malaria, susceptibility to | CCCCATAGCCCACAGGTATGCAGGGGCCGGCAGCTGGGCCTCACCTGCGCACGAAGTGCATCTGGCTCCCGCAGAAGACGTCCAGGATGAGGCGCTCATAGGCGTCAGGGAGCTTCACGTTCTGTGAGGGAGAGAGTGTCTTGCTGATGCCACTGCCTGCCACCATGTGGAGTCCCCCGGGCCCAGGCCGCCCACCCTCCACACTGCTCCTTCTCTGTAGGGCACCTTGTATCTGTTGCCGTAGGTCAGGTCCAGCTCCGACTCCTCGGGGTTGAAGAACATGCCCGGCTTCTTGGTCATCATCTTGGTGTACACGGCCT... | CCCCATAGCCCACAGGTATGCAGGGGCCGGCAGCTGGGCCTCACCTGCGCACGAAGTGCATCTGGCTCCCGCAGAAGACGTCCAGGATGAGGCGCTCATAGGCGTCAGGGAGCTTCACGTTCTGTGAGGGAGAGAGTGTCTTGCTGATGCCACTGCCTGCCACCATGTGGAGTCCCCCGGGCCCAGGCCGCCCACCCTCCACACTGCTCCTTCTCTGTAGGGCACCTTGTATCTGTTGCCGTAGGTCAGGTCCAGCTCCGACTCCTCGGGGTTGAAGAACATGCCCGGCTTCTTGGTCATCATCTTGGTGTACACGGCCT... |
Task1_train_31754 | Mutation context: Chromosome X, Gene G6PD (glucose-6-phosphate dehydrogenase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | TGCATCTGGCTCCCGCAGAAGACGTCCAGGATGAGGCGCTCATAGGCGTCAGGGAGCTTCACGTTCTGTGAGGGAGAGAGTGTCTTGCTGATGCCACTGCCTGCCACCATGTGGAGTCCCCCGGGCCCAGGCCGCCCACCCTCCACACTGCTCCTTCTCTGTAGGGCACCTTGTATCTGTTGCCGTAGGTCAGGTCCAGCTCCGACTCCTCGGGGTTGAAGAACATGCCCGGCTTCTTGGTCATCATCTTGGTGTACACGGCCTCGTTGGGCTGCACGCGGATCACCAGCTCGTTGCGCTTGCACTGCTGGTGGAAGATG... | TGCATCTGGCTCCCGCAGAAGACGTCCAGGATGAGGCGCTCATAGGCGTCAGGGAGCTTCACGTTCTGTGAGGGAGAGAGTGTCTTGCTGATGCCACTGCCTGCCACCATGTGGAGTCCCCCGGGCCCAGGCCGCCCACCCTCCACACTGCTCCTTCTCTGTAGGGCACCTTGTATCTGTTGCCGTAGGTCAGGTCCAGCTCCGACTCCTCGGGGTTGAAGAACATGCCCGGCTTCTTGGTCATCATCTTGGTGTACACGGCCTCGTTGGGCTGCACGCGGATCACCAGCTCGTTGCGCTTGCACTGCTGGTGGAAGATG... |
Task1_train_31755 | This variant affects the gene G6PD (glucose-6-phosphate dehydrogenase) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; G6PD deficiency | GAAGACGTCCAGGATGAGGCGCTCATAGGCGTCAGGGAGCTTCACGTTCTGTGAGGGAGAGAGTGTCTTGCTGATGCCACTGCCTGCCACCATGTGGAGTCCCCCGGGCCCAGGCCGCCCACCCTCCACACTGCTCCTTCTCTGTAGGGCACCTTGTATCTGTTGCCGTAGGTCAGGTCCAGCTCCGACTCCTCGGGGTTGAAGAACATGCCCGGCTTCTTGGTCATCATCTTGGTGTACACGGCCTCGTTGGGCTGCACGCGGATCACCAGCTCGTTGCGCTTGCACTGCTGGTGGAAGATGTCGCCGGCCACATCATG... | GAAGACGTCCAGGATGAGGCGCTCATAGGCGTCAGGGAGCTTCACGTTCTGTGAGGGAGAGAGTGTCTTGCTGATGCCACTGCCTGCCACCATGTGGAGTCCCCCGGGCCCAGGCCGCCCACCCTCCACACTGCTCCTTCTCTGTAGGGCACCTTGTATCTGTTGCCGTAGGTCAGGTCCAGCTCCGACTCCTCGGGGTTGAAGAACATGCCCGGCTTCTTGGTCATCATCTTGGTGTACACGGCCTCGTTGGGCTGCACGCGGATCACCAGCTCGTTGCGCTTGCACTGCTGGTGGAAGATGTCGCCGGCCACATCATG... |
Task1_train_31756 | This sequence change occurs on Chromosome X, altering G6PD (glucose-6-phosphate dehydrogenase). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | GAAGACGTCCAGGATGAGGCGCTCATAGGCGTCAGGGAGCTTCACGTTCTGTGAGGGAGAGAGTGTCTTGCTGATGCCACTGCCTGCCACCATGTGGAGTCCCCCGGGCCCAGGCCGCCCACCCTCCACACTGCTCCTTCTCTGTAGGGCACCTTGTATCTGTTGCCGTAGGTCAGGTCCAGCTCCGACTCCTCGGGGTTGAAGAACATGCCCGGCTTCTTGGTCATCATCTTGGTGTACACGGCCTCGTTGGGCTGCACGCGGATCACCAGCTCGTTGCGCTTGCACTGCTGGTGGAAGATGTCGCCGGCCACATCATG... | GAAGACGTCCAGGATGAGGCGCTCATAGGCGTCAGGGAGCTTCACGTTCTGTGAGGGAGAGAGTGTCTTGCTGATGCCACTGCCTGCCACCATGTGGAGTCCCCCGGGCCCAGGCCGCCCACCCTCCACACTGCTCCTTCTCTGTAGGGCACCTTGTATCTGTTGCCGTAGGTCAGGTCCAGCTCCGACTCCTCGGGGTTGAAGAACATGCCCGGCTTCTTGGTCATCATCTTGGTGTACACGGCCTCGTTGGGCTGCACGCGGATCACCAGCTCGTTGCGCTTGCACTGCTGGTGGAAGATGTCGCCGGCCACATCATG... |
Task1_train_31757 | Here is a mutation in G6PD (glucose-6-phosphate dehydrogenase) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | AGACGTCCAGGATGAGGCGCTCATAGGCGTCAGGGAGCTTCACGTTCTGTGAGGGAGAGAGTGTCTTGCTGATGCCACTGCCTGCCACCATGTGGAGTCCCCCGGGCCCAGGCCGCCCACCCTCCACACTGCTCCTTCTCTGTAGGGCACCTTGTATCTGTTGCCGTAGGTCAGGTCCAGCTCCGACTCCTCGGGGTTGAAGAACATGCCCGGCTTCTTGGTCATCATCTTGGTGTACACGGCCTCGTTGGGCTGCACGCGGATCACCAGCTCGTTGCGCTTGCACTGCTGGTGGAAGATGTCGCCGGCCACATCATGGA... | AGACGTCCAGGATGAGGCGCTCATAGGCGTCAGGGAGCTTCACGTTCTGTGAGGGAGAGAGTGTCTTGCTGATGCCACTGCCTGCCACCATGTGGAGTCCCCCGGGCCCAGGCCGCCCACCCTCCACACTGCTCCTTCTCTGTAGGGCACCTTGTATCTGTTGCCGTAGGTCAGGTCCAGCTCCGACTCCTCGGGGTTGAAGAACATGCCCGGCTTCTTGGTCATCATCTTGGTGTACACGGCCTCGTTGGGCTGCACGCGGATCACCAGCTCGTTGCGCTTGCACTGCTGGTGGAAGATGTCGCCGGCCACATCATGGA... |
Task1_train_31758 | A sequence alteration has been identified in G6PD (glucose-6-phosphate dehydrogenase) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; Malaria, susceptibility to | AGACGTCCAGGATGAGGCGCTCATAGGCGTCAGGGAGCTTCACGTTCTGTGAGGGAGAGAGTGTCTTGCTGATGCCACTGCCTGCCACCATGTGGAGTCCCCCGGGCCCAGGCCGCCCACCCTCCACACTGCTCCTTCTCTGTAGGGCACCTTGTATCTGTTGCCGTAGGTCAGGTCCAGCTCCGACTCCTCGGGGTTGAAGAACATGCCCGGCTTCTTGGTCATCATCTTGGTGTACACGGCCTCGTTGGGCTGCACGCGGATCACCAGCTCGTTGCGCTTGCACTGCTGGTGGAAGATGTCGCCGGCCACATCATGGA... | AGACGTCCAGGATGAGGCGCTCATAGGCGTCAGGGAGCTTCACGTTCTGTGAGGGAGAGAGTGTCTTGCTGATGCCACTGCCTGCCACCATGTGGAGTCCCCCGGGCCCAGGCCGCCCACCCTCCACACTGCTCCTTCTCTGTAGGGCACCTTGTATCTGTTGCCGTAGGTCAGGTCCAGCTCCGACTCCTCGGGGTTGAAGAACATGCCCGGCTTCTTGGTCATCATCTTGGTGTACACGGCCTCGTTGGGCTGCACGCGGATCACCAGCTCGTTGCGCTTGCACTGCTGGTGGAAGATGTCGCCGGCCACATCATGGA... |
Task1_train_31759 | A variant has been detected on Chromosome X in G6PD (glucose-6-phosphate dehydrogenase). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | GATGTGCAGCCCTCAGGGCAGGAGGAGGCCCCTGCTTGGCTCTGCTCACCCTGCCAGAGGCCCAGCTCAGGGCCCCTCCCTGAGGACCCTCCAGGACCACCCTGGTCCATCTCGAGTCTATTCTGATGAACAAGCTGAGGCCCAGAGAGGCAATGGCCTTCCCTGGTCACATAGTGACTGTCAGGCCTGGGACATGACAACTTGGGCTTCATGACTGCCAGTCCAGGTCACCTCCGGGAGGCCACGCTGTGCTCAGAGGTGGTGACTTCTCCGGGGTTGAGGACACCTGCTCTGCATGCACACCCCAGCTCAGTGCCTCG... | GATGTGCAGCCCTCAGGGCAGGAGGAGGCCCCTGCTTGGCTCTGCTCACCCTGCCAGAGGCCCAGCTCAGGGCCCCTCCCTGAGGACCCTCCAGGACCACCCTGGTCCATCTCGAGTCTATTCTGATGAACAAGCTGAGGCCCAGAGAGGCAATGGCCTTCCCTGGTCACATAGTGACTGTCAGGCCTGGGACATGACAACTTGGGCTTCATGACTGCCAGTCCAGGTCACCTCCGGGAGGCCACGCTGTGCTCAGAGGTGGTGACTTCTCCGGGGTTGAGGACACCTGCTCTGCATGCACACCCCAGCTCAGTGCCTCG... |
Task1_train_31760 | Here is a variant affecting G6PD (glucose-6-phosphate dehydrogenase) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Malaria, susceptibility to | GATGTGCAGCCCTCAGGGCAGGAGGAGGCCCCTGCTTGGCTCTGCTCACCCTGCCAGAGGCCCAGCTCAGGGCCCCTCCCTGAGGACCCTCCAGGACCACCCTGGTCCATCTCGAGTCTATTCTGATGAACAAGCTGAGGCCCAGAGAGGCAATGGCCTTCCCTGGTCACATAGTGACTGTCAGGCCTGGGACATGACAACTTGGGCTTCATGACTGCCAGTCCAGGTCACCTCCGGGAGGCCACGCTGTGCTCAGAGGTGGTGACTTCTCCGGGGTTGAGGACACCTGCTCTGCATGCACACCCCAGCTCAGTGCCTCG... | GATGTGCAGCCCTCAGGGCAGGAGGAGGCCCCTGCTTGGCTCTGCTCACCCTGCCAGAGGCCCAGCTCAGGGCCCCTCCCTGAGGACCCTCCAGGACCACCCTGGTCCATCTCGAGTCTATTCTGATGAACAAGCTGAGGCCCAGAGAGGCAATGGCCTTCCCTGGTCACATAGTGACTGTCAGGCCTGGGACATGACAACTTGGGCTTCATGACTGCCAGTCCAGGTCACCTCCGGGAGGCCACGCTGTGCTCAGAGGTGGTGACTTCTCCGGGGTTGAGGACACCTGCTCTGCATGCACACCCCAGCTCAGTGCCTCG... |
Task1_train_31761 | The variant affects gene G6PD (glucose-6-phosphate dehydrogenase), which is on Chromosome X. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; G6PD deficiency | GATGTGCAGCCCTCAGGGCAGGAGGAGGCCCCTGCTTGGCTCTGCTCACCCTGCCAGAGGCCCAGCTCAGGGCCCCTCCCTGAGGACCCTCCAGGACCACCCTGGTCCATCTCGAGTCTATTCTGATGAACAAGCTGAGGCCCAGAGAGGCAATGGCCTTCCCTGGTCACATAGTGACTGTCAGGCCTGGGACATGACAACTTGGGCTTCATGACTGCCAGTCCAGGTCACCTCCGGGAGGCCACGCTGTGCTCAGAGGTGGTGACTTCTCCGGGGTTGAGGACACCTGCTCTGCATGCACACCCCAGCTCAGTGCCTCG... | GATGTGCAGCCCTCAGGGCAGGAGGAGGCCCCTGCTTGGCTCTGCTCACCCTGCCAGAGGCCCAGCTCAGGGCCCCTCCCTGAGGACCCTCCAGGACCACCCTGGTCCATCTCGAGTCTATTCTGATGAACAAGCTGAGGCCCAGAGAGGCAATGGCCTTCCCTGGTCACATAGTGACTGTCAGGCCTGGGACATGACAACTTGGGCTTCATGACTGCCAGTCCAGGTCACCTCCGGGAGGCCACGCTGTGCTCAGAGGTGGTGACTTCTCCGGGGTTGAGGACACCTGCTCTGCATGCACACCCCAGCTCAGTGCCTCG... |
Task1_train_31762 | This variant impacts the gene G6PD (glucose-6-phosphate dehydrogenase) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; Malaria, susceptibility to | GAGGAGGCCCCTGCTTGGCTCTGCTCACCCTGCCAGAGGCCCAGCTCAGGGCCCCTCCCTGAGGACCCTCCAGGACCACCCTGGTCCATCTCGAGTCTATTCTGATGAACAAGCTGAGGCCCAGAGAGGCAATGGCCTTCCCTGGTCACATAGTGACTGTCAGGCCTGGGACATGACAACTTGGGCTTCATGACTGCCAGTCCAGGTCACCTCCGGGAGGCCACGCTGTGCTCAGAGGTGGTGACTTCTCCGGGGTTGAGGACACCTGCTCTGCATGCACACCCCAGCTCAGTGCCTCGTCACAGATGGGCCTGCGACAG... | GAGGAGGCCCCTGCTTGGCTCTGCTCACCCTGCCAGAGGCCCAGCTCAGGGCCCCTCCCTGAGGACCCTCCAGGACCACCCTGGTCCATCTCGAGTCTATTCTGATGAACAAGCTGAGGCCCAGAGAGGCAATGGCCTTCCCTGGTCACATAGTGACTGTCAGGCCTGGGACATGACAACTTGGGCTTCATGACTGCCAGTCCAGGTCACCTCCGGGAGGCCACGCTGTGCTCAGAGGTGGTGACTTCTCCGGGGTTGAGGACACCTGCTCTGCATGCACACCCCAGCTCAGTGCCTCGTCACAGATGGGCCTGCGACAG... |
Task1_train_31763 | A mutation in G6PD (glucose-6-phosphate dehydrogenase), located on Chromosome X, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | GAGGAGGCCCCTGCTTGGCTCTGCTCACCCTGCCAGAGGCCCAGCTCAGGGCCCCTCCCTGAGGACCCTCCAGGACCACCCTGGTCCATCTCGAGTCTATTCTGATGAACAAGCTGAGGCCCAGAGAGGCAATGGCCTTCCCTGGTCACATAGTGACTGTCAGGCCTGGGACATGACAACTTGGGCTTCATGACTGCCAGTCCAGGTCACCTCCGGGAGGCCACGCTGTGCTCAGAGGTGGTGACTTCTCCGGGGTTGAGGACACCTGCTCTGCATGCACACCCCAGCTCAGTGCCTCGTCACAGATGGGCCTGCGACAG... | GAGGAGGCCCCTGCTTGGCTCTGCTCACCCTGCCAGAGGCCCAGCTCAGGGCCCCTCCCTGAGGACCCTCCAGGACCACCCTGGTCCATCTCGAGTCTATTCTGATGAACAAGCTGAGGCCCAGAGAGGCAATGGCCTTCCCTGGTCACATAGTGACTGTCAGGCCTGGGACATGACAACTTGGGCTTCATGACTGCCAGTCCAGGTCACCTCCGGGAGGCCACGCTGTGCTCAGAGGTGGTGACTTCTCCGGGGTTGAGGACACCTGCTCTGCATGCACACCCCAGCTCAGTGCCTCGTCACAGATGGGCCTGCGACAG... |
Task1_train_31764 | This mutation occurs in G6PD (glucose-6-phosphate dehydrogenase) on Chromosome X. Does this change lead to a known medical condition, or is it benign? | Pathogenic; G6PD deficiency | GAGGAGGCCCCTGCTTGGCTCTGCTCACCCTGCCAGAGGCCCAGCTCAGGGCCCCTCCCTGAGGACCCTCCAGGACCACCCTGGTCCATCTCGAGTCTATTCTGATGAACAAGCTGAGGCCCAGAGAGGCAATGGCCTTCCCTGGTCACATAGTGACTGTCAGGCCTGGGACATGACAACTTGGGCTTCATGACTGCCAGTCCAGGTCACCTCCGGGAGGCCACGCTGTGCTCAGAGGTGGTGACTTCTCCGGGGTTGAGGACACCTGCTCTGCATGCACACCCCAGCTCAGTGCCTCGTCACAGATGGGCCTGCGACAG... | GAGGAGGCCCCTGCTTGGCTCTGCTCACCCTGCCAGAGGCCCAGCTCAGGGCCCCTCCCTGAGGACCCTCCAGGACCACCCTGGTCCATCTCGAGTCTATTCTGATGAACAAGCTGAGGCCCAGAGAGGCAATGGCCTTCCCTGGTCACATAGTGACTGTCAGGCCTGGGACATGACAACTTGGGCTTCATGACTGCCAGTCCAGGTCACCTCCGGGAGGCCACGCTGTGCTCAGAGGTGGTGACTTCTCCGGGGTTGAGGACACCTGCTCTGCATGCACACCCCAGCTCAGTGCCTCGTCACAGATGGGCCTGCGACAG... |
Task1_train_31765 | With a mutation on Chromosome X in gene G6PD (glucose-6-phosphate dehydrogenase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | GAGGACCCTCCAGGACCACCCTGGTCCATCTCGAGTCTATTCTGATGAACAAGCTGAGGCCCAGAGAGGCAATGGCCTTCCCTGGTCACATAGTGACTGTCAGGCCTGGGACATGACAACTTGGGCTTCATGACTGCCAGTCCAGGTCACCTCCGGGAGGCCACGCTGTGCTCAGAGGTGGTGACTTCTCCGGGGTTGAGGACACCTGCTCTGCATGCACACCCCAGCTCAGTGCCTCGTCACAGATGGGCCTGCGACAGGGCATGCTCCTGGGGACTGGGGTGCACCCCCTACCTTCTCATCACGGACGTCATCTGAGT... | GAGGACCCTCCAGGACCACCCTGGTCCATCTCGAGTCTATTCTGATGAACAAGCTGAGGCCCAGAGAGGCAATGGCCTTCCCTGGTCACATAGTGACTGTCAGGCCTGGGACATGACAACTTGGGCTTCATGACTGCCAGTCCAGGTCACCTCCGGGAGGCCACGCTGTGCTCAGAGGTGGTGACTTCTCCGGGGTTGAGGACACCTGCTCTGCATGCACACCCCAGCTCAGTGCCTCGTCACAGATGGGCCTGCGACAGGGCATGCTCCTGGGGACTGGGGTGCACCCCCTACCTTCTCATCACGGACGTCATCTGAGT... |
Task1_train_31766 | A mutation on Chromosome X affecting G6PD (glucose-6-phosphate dehydrogenase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | ACTTAGGTTTTGAACTGCAGGGTGAGGAGGAGCTCCCCCAAGATAGGGAAGAGTAGCCCTGCAGGGTGACTGGCTCTGCCACCCTGTGCCAGCCTCCCAGGAGAGAGGAAGAGCTCTCACCGGATGATCCCAAATTCATCGAAATAGCCCCCGCGACCCTCAGTGCCAAAGGGCTCCTTGAAGGTGAGGATAACGCAGGCGATGTTGTCCCGGTTCCAGATGGGGCCGAAGATCCTGTTGGCAAATCTGCAGGGAGGGGCAAGGTGGAGGAACTGACCTTGGGCCTCTGTGGTGCAGGGGCCACATGTGAGGGGTCACCC... | ACTTAGGTTTTGAACTGCAGGGTGAGGAGGAGCTCCCCCAAGATAGGGAAGAGTAGCCCTGCAGGGTGACTGGCTCTGCCACCCTGTGCCAGCCTCCCAGGAGAGAGGAAGAGCTCTCACCGGATGATCCCAAATTCATCGAAATAGCCCCCGCGACCCTCAGTGCCAAAGGGCTCCTTGAAGGTGAGGATAACGCAGGCGATGTTGTCCCGGTTCCAGATGGGGCCGAAGATCCTGTTGGCAAATCTGCAGGGAGGGGCAAGGTGGAGGAACTGACCTTGGGCCTCTGTGGTGCAGGGGCCACATGTGAGGGGTCACCC... |
Task1_train_31767 | Gene G6PD (glucose-6-phosphate dehydrogenase), found on Chromosome X, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | CTGGCTCTGCCACCCTGTGCCAGCCTCCCAGGAGAGAGGAAGAGCTCTCACCGGATGATCCCAAATTCATCGAAATAGCCCCCGCGACCCTCAGTGCCAAAGGGCTCCTTGAAGGTGAGGATAACGCAGGCGATGTTGTCCCGGTTCCAGATGGGGCCGAAGATCCTGTTGGCAAATCTGCAGGGAGGGGCAAGGTGGAGGAACTGACCTTGGGCCTCTGTGGTGCAGGGGCCACATGTGAGGGGTCACCCTTGTCTGAGTTCTGGAGGAATTCGTCCTCGGGGAGGCAGTGGGCCAGGTGAGGCTCCTGAGTACCACCC... | CTGGCTCTGCCACCCTGTGCCAGCCTCCCAGGAGAGAGGAAGAGCTCTCACCGGATGATCCCAAATTCATCGAAATAGCCCCCGCGACCCTCAGTGCCAAAGGGCTCCTTGAAGGTGAGGATAACGCAGGCGATGTTGTCCCGGTTCCAGATGGGGCCGAAGATCCTGTTGGCAAATCTGCAGGGAGGGGCAAGGTGGAGGAACTGACCTTGGGCCTCTGTGGTGCAGGGGCCACATGTGAGGGGTCACCCTTGTCTGAGTTCTGGAGGAATTCGTCCTCGGGGAGGCAGTGGGCCAGGTGAGGCTCCTGAGTACCACCC... |
Task1_train_31768 | This mutation is located in gene G6PD (glucose-6-phosphate dehydrogenase) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not specified | CTGGCTCTGCCACCCTGTGCCAGCCTCCCAGGAGAGAGGAAGAGCTCTCACCGGATGATCCCAAATTCATCGAAATAGCCCCCGCGACCCTCAGTGCCAAAGGGCTCCTTGAAGGTGAGGATAACGCAGGCGATGTTGTCCCGGTTCCAGATGGGGCCGAAGATCCTGTTGGCAAATCTGCAGGGAGGGGCAAGGTGGAGGAACTGACCTTGGGCCTCTGTGGTGCAGGGGCCACATGTGAGGGGTCACCCTTGTCTGAGTTCTGGAGGAATTCGTCCTCGGGGAGGCAGTGGGCCAGGTGAGGCTCCTGAGTACCACCC... | CTGGCTCTGCCACCCTGTGCCAGCCTCCCAGGAGAGAGGAAGAGCTCTCACCGGATGATCCCAAATTCATCGAAATAGCCCCCGCGACCCTCAGTGCCAAAGGGCTCCTTGAAGGTGAGGATAACGCAGGCGATGTTGTCCCGGTTCCAGATGGGGCCGAAGATCCTGTTGGCAAATCTGCAGGGAGGGGCAAGGTGGAGGAACTGACCTTGGGCCTCTGTGGTGCAGGGGCCACATGTGAGGGGTCACCCTTGTCTGAGTTCTGGAGGAATTCGTCCTCGGGGAGGCAGTGGGCCAGGTGAGGCTCCTGAGTACCACCC... |
Task1_train_31769 | This mutation occurs in G6PD (glucose-6-phosphate dehydrogenase) on Chromosome X. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Malaria, susceptibility to | TGTCCCGGTTCCAGATGGGGCCGAAGATCCTGTTGGCAAATCTGCAGGGAGGGGCAAGGTGGAGGAACTGACCTTGGGCCTCTGTGGTGCAGGGGCCACATGTGAGGGGTCACCCTTGTCTGAGTTCTGGAGGAATTCGTCCTCGGGGAGGCAGTGGGCCAGGTGAGGCTCCTGAGTACCACCCCCACCCTGGTCCCCCGGCCCAGGCTTGGCCCCACCTCAGCACCATGAGGTTCTGCACCATCTCCTTGCCCAGGTAGTGGTCGATGCGGTAGATCTGGTCCTCACGGAACAGGGAGGAGATGTGGTTGGACAGCCGG... | TGTCCCGGTTCCAGATGGGGCCGAAGATCCTGTTGGCAAATCTGCAGGGAGGGGCAAGGTGGAGGAACTGACCTTGGGCCTCTGTGGTGCAGGGGCCACATGTGAGGGGTCACCCTTGTCTGAGTTCTGGAGGAATTCGTCCTCGGGGAGGCAGTGGGCCAGGTGAGGCTCCTGAGTACCACCCCCACCCTGGTCCCCCGGCCCAGGCTTGGCCCCACCTCAGCACCATGAGGTTCTGCACCATCTCCTTGCCCAGGTAGTGGTCGATGCGGTAGATCTGGTCCTCACGGAACAGGGAGGAGATGTGGTTGGACAGCCGG... |
Task1_train_31770 | The following genetic variant occurs in G6PD (glucose-6-phosphate dehydrogenase) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | TGTCCCGGTTCCAGATGGGGCCGAAGATCCTGTTGGCAAATCTGCAGGGAGGGGCAAGGTGGAGGAACTGACCTTGGGCCTCTGTGGTGCAGGGGCCACATGTGAGGGGTCACCCTTGTCTGAGTTCTGGAGGAATTCGTCCTCGGGGAGGCAGTGGGCCAGGTGAGGCTCCTGAGTACCACCCCCACCCTGGTCCCCCGGCCCAGGCTTGGCCCCACCTCAGCACCATGAGGTTCTGCACCATCTCCTTGCCCAGGTAGTGGTCGATGCGGTAGATCTGGTCCTCACGGAACAGGGAGGAGATGTGGTTGGACAGCCGG... | TGTCCCGGTTCCAGATGGGGCCGAAGATCCTGTTGGCAAATCTGCAGGGAGGGGCAAGGTGGAGGAACTGACCTTGGGCCTCTGTGGTGCAGGGGCCACATGTGAGGGGTCACCCTTGTCTGAGTTCTGGAGGAATTCGTCCTCGGGGAGGCAGTGGGCCAGGTGAGGCTCCTGAGTACCACCCCCACCCTGGTCCCCCGGCCCAGGCTTGGCCCCACCTCAGCACCATGAGGTTCTGCACCATCTCCTTGCCCAGGTAGTGGTCGATGCGGTAGATCTGGTCCTCACGGAACAGGGAGGAGATGTGGTTGGACAGCCGG... |
Task1_train_31771 | Assess the clinical impact of this variant on gene G6PD (glucose-6-phosphate dehydrogenase), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Malaria, susceptibility to | TGTCCCGGTTCCAGATGGGGCCGAAGATCCTGTTGGCAAATCTGCAGGGAGGGGCAAGGTGGAGGAACTGACCTTGGGCCTCTGTGGTGCAGGGGCCACATGTGAGGGGTCACCCTTGTCTGAGTTCTGGAGGAATTCGTCCTCGGGGAGGCAGTGGGCCAGGTGAGGCTCCTGAGTACCACCCCCACCCTGGTCCCCCGGCCCAGGCTTGGCCCCACCTCAGCACCATGAGGTTCTGCACCATCTCCTTGCCCAGGTAGTGGTCGATGCGGTAGATCTGGTCCTCACGGAACAGGGAGGAGATGTGGTTGGACAGCCGG... | TGTCCCGGTTCCAGATGGGGCCGAAGATCCTGTTGGCAAATCTGCAGGGAGGGGCAAGGTGGAGGAACTGACCTTGGGCCTCTGTGGTGCAGGGGCCACATGTGAGGGGTCACCCTTGTCTGAGTTCTGGAGGAATTCGTCCTCGGGGAGGCAGTGGGCCAGGTGAGGCTCCTGAGTACCACCCCCACCCTGGTCCCCCGGCCCAGGCTTGGCCCCACCTCAGCACCATGAGGTTCTGCACCATCTCCTTGCCCAGGTAGTGGTCGATGCGGTAGATCTGGTCCTCACGGAACAGGGAGGAGATGTGGTTGGACAGCCGG... |
Task1_train_31772 | Gene G6PD (glucose-6-phosphate dehydrogenase) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | TGTCCCGGTTCCAGATGGGGCCGAAGATCCTGTTGGCAAATCTGCAGGGAGGGGCAAGGTGGAGGAACTGACCTTGGGCCTCTGTGGTGCAGGGGCCACATGTGAGGGGTCACCCTTGTCTGAGTTCTGGAGGAATTCGTCCTCGGGGAGGCAGTGGGCCAGGTGAGGCTCCTGAGTACCACCCCCACCCTGGTCCCCCGGCCCAGGCTTGGCCCCACCTCAGCACCATGAGGTTCTGCACCATCTCCTTGCCCAGGTAGTGGTCGATGCGGTAGATCTGGTCCTCACGGAACAGGGAGGAGATGTGGTTGGACAGCCGG... | TGTCCCGGTTCCAGATGGGGCCGAAGATCCTGTTGGCAAATCTGCAGGGAGGGGCAAGGTGGAGGAACTGACCTTGGGCCTCTGTGGTGCAGGGGCCACATGTGAGGGGTCACCCTTGTCTGAGTTCTGGAGGAATTCGTCCTCGGGGAGGCAGTGGGCCAGGTGAGGCTCCTGAGTACCACCCCCACCCTGGTCCCCCGGCCCAGGCTTGGCCCCACCTCAGCACCATGAGGTTCTGCACCATCTCCTTGCCCAGGTAGTGGTCGATGCGGTAGATCTGGTCCTCACGGAACAGGGAGGAGATGTGGTTGGACAGCCGG... |
Task1_train_31773 | This alteration occurs within gene G6PD (glucose-6-phosphate dehydrogenase) located on Chromosome X. Is it associated with a disease or is it a benign variant? | Pathogenic; G6PD deficiency | TGTCCCGGTTCCAGATGGGGCCGAAGATCCTGTTGGCAAATCTGCAGGGAGGGGCAAGGTGGAGGAACTGACCTTGGGCCTCTGTGGTGCAGGGGCCACATGTGAGGGGTCACCCTTGTCTGAGTTCTGGAGGAATTCGTCCTCGGGGAGGCAGTGGGCCAGGTGAGGCTCCTGAGTACCACCCCCACCCTGGTCCCCCGGCCCAGGCTTGGCCCCACCTCAGCACCATGAGGTTCTGCACCATCTCCTTGCCCAGGTAGTGGTCGATGCGGTAGATCTGGTCCTCACGGAACAGGGAGGAGATGTGGTTGGACAGCCGG... | TGTCCCGGTTCCAGATGGGGCCGAAGATCCTGTTGGCAAATCTGCAGGGAGGGGCAAGGTGGAGGAACTGACCTTGGGCCTCTGTGGTGCAGGGGCCACATGTGAGGGGTCACCCTTGTCTGAGTTCTGGAGGAATTCGTCCTCGGGGAGGCAGTGGGCCAGGTGAGGCTCCTGAGTACCACCCCCACCCTGGTCCCCCGGCCCAGGCTTGGCCCCACCTCAGCACCATGAGGTTCTGCACCATCTCCTTGCCCAGGTAGTGGTCGATGCGGTAGATCTGGTCCTCACGGAACAGGGAGGAGATGTGGTTGGACAGCCGG... |
Task1_train_31774 | Here’s a variant in G6PD (glucose-6-phosphate dehydrogenase) located on Chromosome X. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | GTCCCGGTTCCAGATGGGGCCGAAGATCCTGTTGGCAAATCTGCAGGGAGGGGCAAGGTGGAGGAACTGACCTTGGGCCTCTGTGGTGCAGGGGCCACATGTGAGGGGTCACCCTTGTCTGAGTTCTGGAGGAATTCGTCCTCGGGGAGGCAGTGGGCCAGGTGAGGCTCCTGAGTACCACCCCCACCCTGGTCCCCCGGCCCAGGCTTGGCCCCACCTCAGCACCATGAGGTTCTGCACCATCTCCTTGCCCAGGTAGTGGTCGATGCGGTAGATCTGGTCCTCACGGAACAGGGAGGAGATGTGGTTGGACAGCCGGT... | GTCCCGGTTCCAGATGGGGCCGAAGATCCTGTTGGCAAATCTGCAGGGAGGGGCAAGGTGGAGGAACTGACCTTGGGCCTCTGTGGTGCAGGGGCCACATGTGAGGGGTCACCCTTGTCTGAGTTCTGGAGGAATTCGTCCTCGGGGAGGCAGTGGGCCAGGTGAGGCTCCTGAGTACCACCCCCACCCTGGTCCCCCGGCCCAGGCTTGGCCCCACCTCAGCACCATGAGGTTCTGCACCATCTCCTTGCCCAGGTAGTGGTCGATGCGGTAGATCTGGTCCTCACGGAACAGGGAGGAGATGTGGTTGGACAGCCGGT... |
Task1_train_31775 | Chromosome X houses a mutation in gene G6PD, IKBKG (glucose-6-phosphate dehydrogenase| inhibitor of nuclear factor kappa B kinase regulatory subunit gamma). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | GTGCCCACACCAGGCCTGGCTAATTTTTTATTTAGTAGAGACGGGATTTCACCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCACCCGCTTCAGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACTGCGCCCGGCCTTTTTGTTTTGTTTTGTTTTGAGACAGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCTGACTCCCTGATTCAAGCGATTCTACTGCCTCAGCCTACTGAGTAGCTGGGACTACAGGCACGCACCACCACGCCCAGCTAAT... | GTGCCCACACCAGGCCTGGCTAATTTTTTATTTAGTAGAGACGGGATTTCACCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCACCCGCTTCAGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACTGCGCCCGGCCTTTTTGTTTTGTTTTGTTTTGAGACAGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCTGACTCCCTGATTCAAGCGATTCTACTGCCTCAGCCTACTGAGTAGCTGGGACTACAGGCACGCACCACCACGCCCAGCTAAT... |
Task1_train_31776 | A variant has been detected on Chromosome X in IKBKG (inhibitor of nuclear factor kappa B kinase regulatory subunit gamma). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Immunodeficiency 33 | GTCCATGGAGGAGGCTGTACTTAGAATGTTGAGGGAGAGATTCACGAAGAAGTTGCATGTCTCTAGTGTGTGACTCCACTAGTGTGAGACATGTCCAGAAGTGGCCAATCTGCAGAGGCAGATGCAGATGAGGAGGGTGCTGGGGGAGCGACTGCTTATGGGGTCCCGGAACTGTTCTGGAATTAGATAGTGCGGATGGTTGCACAACCTGATGGATACACCGAAAACTGCTGAATTAGTTAAAATAGTGAATTTGATGTCATGTGAATTTTACCTCAGTTCAGAACATTTTTTAAAAGACAAGTTGCCAGCCAGGTGCA... | GTCCATGGAGGAGGCTGTACTTAGAATGTTGAGGGAGAGATTCACGAAGAAGTTGCATGTCTCTAGTGTGTGACTCCACTAGTGTGAGACATGTCCAGAAGTGGCCAATCTGCAGAGGCAGATGCAGATGAGGAGGGTGCTGGGGGAGCGACTGCTTATGGGGTCCCGGAACTGTTCTGGAATTAGATAGTGCGGATGGTTGCACAACCTGATGGATACACCGAAAACTGCTGAATTAGTTAAAATAGTGAATTTGATGTCATGTGAATTTTACCTCAGTTCAGAACATTTTTTAAAAGACAAGTTGCCAGCCAGGTGCA... |
Task1_train_31777 | Chromosome X houses a mutation in gene IKBKG (inhibitor of nuclear factor kappa B kinase regulatory subunit gamma). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Ectodermal dysplasia and immunodeficiency 1 | AAGGACACAGGTTACGGTGAGCGAAGGCTCAGGGCGCACAGGGCGGGCTCCAGGAGAGACCAGGCGTGAGCTTCAGCGGCTCCTCGCCCAGGGGAGTTGTGCAGACGGCACCTGTTTCTTTCGGCAACAGTGTGGGACAGCGAGCACGGAGTCACAACCGGGAAGCTCACCCCAGCCGTGGCGGCCGGGGTTTTCACGGGGGGTGGGCCGCGTGGGCACCGAGCGCCTGCGTGGCCAACCCTGGTCACTCGGCTGTAGCCACCAGAGGTCCAGCTGTGTGGCCCAAGGCTCCCCCCATAAATCGTGTCATTAGCACAGAC... | AAGGACACAGGTTACGGTGAGCGAAGGCTCAGGGCGCACAGGGCGGGCTCCAGGAGAGACCAGGCGTGAGCTTCAGCGGCTCCTCGCCCAGGGGAGTTGTGCAGACGGCACCTGTTTCTTTCGGCAACAGTGTGGGACAGCGAGCACGGAGTCACAACCGGGAAGCTCACCCCAGCCGTGGCGGCCGGGGTTTTCACGGGGGGTGGGCCGCGTGGGCACCGAGCGCCTGCGTGGCCAACCCTGGTCACTCGGCTGTAGCCACCAGAGGTCCAGCTGTGTGGCCCAAGGCTCCCCCCATAAATCGTGTCATTAGCACAGAC... |
Task1_train_31778 | Consider a variant on Chromosome X in gene IKBKG (inhibitor of nuclear factor kappa B kinase regulatory subunit gamma). Determine its clinical classification and disease relevance. | Pathogenic; Immunodeficiency 33 | CCAGGCGTGAGCTTCAGCGGCTCCTCGCCCAGGGGAGTTGTGCAGACGGCACCTGTTTCTTTCGGCAACAGTGTGGGACAGCGAGCACGGAGTCACAACCGGGAAGCTCACCCCAGCCGTGGCGGCCGGGGTTTTCACGGGGGGTGGGCCGCGTGGGCACCGAGCGCCTGCGTGGCCAACCCTGGTCACTCGGCTGTAGCCACCAGAGGTCCAGCTGTGTGGCCCAAGGCTCCCCCCATAAATCGTGTCATTAGCACAGACCGCCTGGTTTCAGGGTCTTTGTGTGTGGGCTTGGCTGATCGCAGGATCCTGGCGATGGT... | CCAGGCGTGAGCTTCAGCGGCTCCTCGCCCAGGGGAGTTGTGCAGACGGCACCTGTTTCTTTCGGCAACAGTGTGGGACAGCGAGCACGGAGTCACAACCGGGAAGCTCACCCCAGCCGTGGCGGCCGGGGTTTTCACGGGGGGTGGGCCGCGTGGGCACCGAGCGCCTGCGTGGCCAACCCTGGTCACTCGGCTGTAGCCACCAGAGGTCCAGCTGTGTGGCCCAAGGCTCCCCCCATAAATCGTGTCATTAGCACAGACCGCCTGGTTTCAGGGTCTTTGTGTGTGGGCTTGGCTGATCGCAGGATCCTGGCGATGGT... |
Task1_train_31779 | A variant was discovered in gene IKBKG (inhibitor of nuclear factor kappa B kinase regulatory subunit gamma), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Ectodermal dysplasia and immunodeficiency 1 | GGGGACTTGTCCTTTAAAACCCCTTCTAGGCCAGGTGCTGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAAGTGGGTAGATGGCTTAAGCCCGGGAGTTCCAAGACCAGCCTGGGCAACAGAAAGACAACAAAAATACCCCCAAACCCCCCCGTCTACCAGCATCCAATCTGGGACCTCAGGTTCCTGTCCTTGGCGTGCCTTTTCAGTCTCCTTTAATCTAGAACAGTTCCCCTGCCTTTCTGAGCTGTTTGTGAAGTTCACAGTTTTGAACAGTGCAGGGTAGTTCCATTGTATTATTACTATTATTTTC... | GGGGACTTGTCCTTTAAAACCCCTTCTAGGCCAGGTGCTGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAAGTGGGTAGATGGCTTAAGCCCGGGAGTTCCAAGACCAGCCTGGGCAACAGAAAGACAACAAAAATACCCCCAAACCCCCCCGTCTACCAGCATCCAATCTGGGACCTCAGGTTCCTGTCCTTGGCGTGCCTTTTCAGTCTCCTTTAATCTAGAACAGTTCCCCTGCCTTTCTGAGCTGTTTGTGAAGTTCACAGTTTTGAACAGTGCAGGGTAGTTCCATTGTATTATTACTATTATTTTC... |
Task1_train_31780 | Located on Chromosome X, this mutation impacts IKBKG (inhibitor of nuclear factor kappa B kinase regulatory subunit gamma). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; not provided | CTCAGGAGTCCTCACACAGCCTTGGAAGACCCCATTCCAGGCCTGTGATGCGAGGGAGGGAAGGAAGGGGGTAGAGTTGGAAGCAGGCAGCACCGTGGCTGGACTGGCATGAGGTGGTTTCTCCAGCAAAAGCTCCCTTTCCTCAGGAGGAAGCTGGCCCAGTTGCAGGTGGCCTATCACCAGCTCTTCCAAGAATACGACAACCACATCAAGAGCAGCGTGGTGGGCAGTGAGCGGAAGCGAGTGAGTGCGACCACTGGGGCTCTAGGGCTGGCCTTGCCTCTTCCTCTCCCCGTGGCCCTGAACCTTGAGAATGGGTA... | CTCAGGAGTCCTCACACAGCCTTGGAAGACCCCATTCCAGGCCTGTGATGCGAGGGAGGGAAGGAAGGGGGTAGAGTTGGAAGCAGGCAGCACCGTGGCTGGACTGGCATGAGGTGGTTTCTCCAGCAAAAGCTCCCTTTCCTCAGGAGGAAGCTGGCCCAGTTGCAGGTGGCCTATCACCAGCTCTTCCAAGAATACGACAACCACATCAAGAGCAGCGTGGTGGGCAGTGAGCGGAAGCGAGTGAGTGCGACCACTGGGGCTCTAGGGCTGGCCTTGCCTCTTCCTCTCCCCGTGGCCCTGAACCTTGAGAATGGGTA... |
Task1_train_31781 | The gene IKBKG (inhibitor of nuclear factor kappa B kinase regulatory subunit gamma) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Immunodeficiency 33 | CACACAGCCTTGGAAGACCCCATTCCAGGCCTGTGATGCGAGGGAGGGAAGGAAGGGGGTAGAGTTGGAAGCAGGCAGCACCGTGGCTGGACTGGCATGAGGTGGTTTCTCCAGCAAAAGCTCCCTTTCCTCAGGAGGAAGCTGGCCCAGTTGCAGGTGGCCTATCACCAGCTCTTCCAAGAATACGACAACCACATCAAGAGCAGCGTGGTGGGCAGTGAGCGGAAGCGAGTGAGTGCGACCACTGGGGCTCTAGGGCTGGCCTTGCCTCTTCCTCTCCCCGTGGCCCTGAACCTTGAGAATGGGTAGACCTGCCTTAG... | CACACAGCCTTGGAAGACCCCATTCCAGGCCTGTGATGCGAGGGAGGGAAGGAAGGGGGTAGAGTTGGAAGCAGGCAGCACCGTGGCTGGACTGGCATGAGGTGGTTTCTCCAGCAAAAGCTCCCTTTCCTCAGGAGGAAGCTGGCCCAGTTGCAGGTGGCCTATCACCAGCTCTTCCAAGAATACGACAACCACATCAAGAGCAGCGTGGTGGGCAGTGAGCGGAAGCGAGTGAGTGCGACCACTGGGGCTCTAGGGCTGGCCTTGCCTCTTCCTCTCCCCGTGGCCCTGAACCTTGAGAATGGGTAGACCTGCCTTAG... |
Task1_train_31782 | Here is a variant affecting IKBKG (inhibitor of nuclear factor kappa B kinase regulatory subunit gamma) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Ectodermal dysplasia and immunodeficiency 1 | CCTGCGTGGGAGGAGTGCACCTCTGACCAGGTGGCAGAGTGGAAGGACTGAGGGCTCTCAGCTGAGCTGTGCACATGGCGGGCACAGGACCGGCTGGCTGTGAGTGGGTGTGGCCTGTGGCCTGTGAAGGGTGGGAGGAGGGCTGTGGAGCTGGGGATTCTGGGAAGGGAATGTCGGCCCAGCTGGGAGGTTGTACCAGATGACCTCAGCGGCCTCTTCAGTCCTGAAAAAAACCTCAGCATCTCCTCTGTCGTTTTGGGCCGTGACAGGACGCAGCCATCTCCCTGTGCACGCTGAGATCCTGCAATGGGCCCTCAAAT... | CCTGCGTGGGAGGAGTGCACCTCTGACCAGGTGGCAGAGTGGAAGGACTGAGGGCTCTCAGCTGAGCTGTGCACATGGCGGGCACAGGACCGGCTGGCTGTGAGTGGGTGTGGCCTGTGGCCTGTGAAGGGTGGGAGGAGGGCTGTGGAGCTGGGGATTCTGGGAAGGGAATGTCGGCCCAGCTGGGAGGTTGTACCAGATGACCTCAGCGGCCTCTTCAGTCCTGAAAAAAACCTCAGCATCTCCTCTGTCGTTTTGGGCCGTGACAGGACGCAGCCATCTCCCTGTGCACGCTGAGATCCTGCAATGGGCCCTCAAAT... |
Task1_train_31783 | A variant on Chromosome X in gene IKBKG (inhibitor of nuclear factor kappa B kinase regulatory subunit gamma) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Ectodermal dysplasia and immunodeficiency 1 | GGCAGAGTGGAAGGACTGAGGGCTCTCAGCTGAGCTGTGCACATGGCGGGCACAGGACCGGCTGGCTGTGAGTGGGTGTGGCCTGTGGCCTGTGAAGGGTGGGAGGAGGGCTGTGGAGCTGGGGATTCTGGGAAGGGAATGTCGGCCCAGCTGGGAGGTTGTACCAGATGACCTCAGCGGCCTCTTCAGTCCTGAAAAAAACCTCAGCATCTCCTCTGTCGTTTTGGGCCGTGACAGGACGCAGCCATCTCCCTGTGCACGCTGAGATCCTGCAATGGGCCCTCAAATCAGGGGCTGGCATCACCCAGCCTGGTCAGCCA... | GGCAGAGTGGAAGGACTGAGGGCTCTCAGCTGAGCTGTGCACATGGCGGGCACAGGACCGGCTGGCTGTGAGTGGGTGTGGCCTGTGGCCTGTGAAGGGTGGGAGGAGGGCTGTGGAGCTGGGGATTCTGGGAAGGGAATGTCGGCCCAGCTGGGAGGTTGTACCAGATGACCTCAGCGGCCTCTTCAGTCCTGAAAAAAACCTCAGCATCTCCTCTGTCGTTTTGGGCCGTGACAGGACGCAGCCATCTCCCTGTGCACGCTGAGATCCTGCAATGGGCCCTCAAATCAGGGGCTGGCATCACCCAGCCTGGTCAGCCA... |
Task1_train_31784 | Consider this mutation in IKBKG (inhibitor of nuclear factor kappa B kinase regulatory subunit gamma) on Chromosome X. Is this a benign change or a disease-causing variant? | Pathogenic; Ectodermal dysplasia and immunodeficiency 1 | GCAGAGTGGAAGGACTGAGGGCTCTCAGCTGAGCTGTGCACATGGCGGGCACAGGACCGGCTGGCTGTGAGTGGGTGTGGCCTGTGGCCTGTGAAGGGTGGGAGGAGGGCTGTGGAGCTGGGGATTCTGGGAAGGGAATGTCGGCCCAGCTGGGAGGTTGTACCAGATGACCTCAGCGGCCTCTTCAGTCCTGAAAAAAACCTCAGCATCTCCTCTGTCGTTTTGGGCCGTGACAGGACGCAGCCATCTCCCTGTGCACGCTGAGATCCTGCAATGGGCCCTCAAATCAGGGGCTGGCATCACCCAGCCTGGTCAGCCAG... | GCAGAGTGGAAGGACTGAGGGCTCTCAGCTGAGCTGTGCACATGGCGGGCACAGGACCGGCTGGCTGTGAGTGGGTGTGGCCTGTGGCCTGTGAAGGGTGGGAGGAGGGCTGTGGAGCTGGGGATTCTGGGAAGGGAATGTCGGCCCAGCTGGGAGGTTGTACCAGATGACCTCAGCGGCCTCTTCAGTCCTGAAAAAAACCTCAGCATCTCCTCTGTCGTTTTGGGCCGTGACAGGACGCAGCCATCTCCCTGTGCACGCTGAGATCCTGCAATGGGCCCTCAAATCAGGGGCTGGCATCACCCAGCCTGGTCAGCCAG... |
Task1_train_31785 | This sequence variant lies in DKC1 (dyskerin pseudouridine synthase 1) on Chromosome X. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Dyskeratosis congenita, X-linked | GAGCTCCGAGTTGCAAGAAAGTTCTAGAGGCCACAAGCCCGCGGGGACAGTCGAGTGGTCGCTTATGGAACTTTCCGGCCCCCTGCGTGAGCGCTTCTGTGGGATGTTTAAGCTCTGCCATAGCCACGTGGTGAACCGGAAGGGAAGCCGACACGTGCAGTAGCCTACAGTCAGTTACCCAGCCATGGGACCCATACATTTGGCCTTACACACCTTGTTTTCTCGCTTACCTACGGATATACGTTCTAAGAAATGGGTCGTTAGGCGATTTCATCATTGTGTGAACATCAGAGGGCTCTTACACAAACCTAGGTGGCATA... | GAGCTCCGAGTTGCAAGAAAGTTCTAGAGGCCACAAGCCCGCGGGGACAGTCGAGTGGTCGCTTATGGAACTTTCCGGCCCCCTGCGTGAGCGCTTCTGTGGGATGTTTAAGCTCTGCCATAGCCACGTGGTGAACCGGAAGGGAAGCCGACACGTGCAGTAGCCTACAGTCAGTTACCCAGCCATGGGACCCATACATTTGGCCTTACACACCTTGTTTTCTCGCTTACCTACGGATATACGTTCTAAGAAATGGGTCGTTAGGCGATTTCATCATTGTGTGAACATCAGAGGGCTCTTACACAAACCTAGGTGGCATA... |
Task1_train_31786 | Located on Chromosome X, this mutation impacts DKC1 (dyskerin pseudouridine synthase 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Dyskeratosis congenita, X-linked | AGAAAGTTCTAGAGGCCACAAGCCCGCGGGGACAGTCGAGTGGTCGCTTATGGAACTTTCCGGCCCCCTGCGTGAGCGCTTCTGTGGGATGTTTAAGCTCTGCCATAGCCACGTGGTGAACCGGAAGGGAAGCCGACACGTGCAGTAGCCTACAGTCAGTTACCCAGCCATGGGACCCATACATTTGGCCTTACACACCTTGTTTTCTCGCTTACCTACGGATATACGTTCTAAGAAATGGGTCGTTAGGCGATTTCATCATTGTGTGAACATCAGAGGGCTCTTACACAAACCTAGGTGGCATAGGCTACTACACACCT... | AGAAAGTTCTAGAGGCCACAAGCCCGCGGGGACAGTCGAGTGGTCGCTTATGGAACTTTCCGGCCCCCTGCGTGAGCGCTTCTGTGGGATGTTTAAGCTCTGCCATAGCCACGTGGTGAACCGGAAGGGAAGCCGACACGTGCAGTAGCCTACAGTCAGTTACCCAGCCATGGGACCCATACATTTGGCCTTACACACCTTGTTTTCTCGCTTACCTACGGATATACGTTCTAAGAAATGGGTCGTTAGGCGATTTCATCATTGTGTGAACATCAGAGGGCTCTTACACAAACCTAGGTGGCATAGGCTACTACACACCT... |
Task1_train_31787 | This variant impacts the gene DKC1 (dyskerin pseudouridine synthase 1) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; Dyskeratosis congenita, X-linked | TCTAGAGGCCACAAGCCCGCGGGGACAGTCGAGTGGTCGCTTATGGAACTTTCCGGCCCCCTGCGTGAGCGCTTCTGTGGGATGTTTAAGCTCTGCCATAGCCACGTGGTGAACCGGAAGGGAAGCCGACACGTGCAGTAGCCTACAGTCAGTTACCCAGCCATGGGACCCATACATTTGGCCTTACACACCTTGTTTTCTCGCTTACCTACGGATATACGTTCTAAGAAATGGGTCGTTAGGCGATTTCATCATTGTGTGAACATCAGAGGGCTCTTACACAAACCTAGGTGGCATAGGCTACTACACACCTAGGCTGT... | TCTAGAGGCCACAAGCCCGCGGGGACAGTCGAGTGGTCGCTTATGGAACTTTCCGGCCCCCTGCGTGAGCGCTTCTGTGGGATGTTTAAGCTCTGCCATAGCCACGTGGTGAACCGGAAGGGAAGCCGACACGTGCAGTAGCCTACAGTCAGTTACCCAGCCATGGGACCCATACATTTGGCCTTACACACCTTGTTTTCTCGCTTACCTACGGATATACGTTCTAAGAAATGGGTCGTTAGGCGATTTCATCATTGTGTGAACATCAGAGGGCTCTTACACAAACCTAGGTGGCATAGGCTACTACACACCTAGGCTGT... |
Task1_train_31788 | A mutation found in DKC1 (dyskerin pseudouridine synthase 1) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Dyskeratosis congenita, X-linked | GGCCACAAGCCCGCGGGGACAGTCGAGTGGTCGCTTATGGAACTTTCCGGCCCCCTGCGTGAGCGCTTCTGTGGGATGTTTAAGCTCTGCCATAGCCACGTGGTGAACCGGAAGGGAAGCCGACACGTGCAGTAGCCTACAGTCAGTTACCCAGCCATGGGACCCATACATTTGGCCTTACACACCTTGTTTTCTCGCTTACCTACGGATATACGTTCTAAGAAATGGGTCGTTAGGCGATTTCATCATTGTGTGAACATCAGAGGGCTCTTACACAAACCTAGGTGGCATAGGCTACTACACACCTAGGCTGTATATGG... | GGCCACAAGCCCGCGGGGACAGTCGAGTGGTCGCTTATGGAACTTTCCGGCCCCCTGCGTGAGCGCTTCTGTGGGATGTTTAAGCTCTGCCATAGCCACGTGGTGAACCGGAAGGGAAGCCGACACGTGCAGTAGCCTACAGTCAGTTACCCAGCCATGGGACCCATACATTTGGCCTTACACACCTTGTTTTCTCGCTTACCTACGGATATACGTTCTAAGAAATGGGTCGTTAGGCGATTTCATCATTGTGTGAACATCAGAGGGCTCTTACACAAACCTAGGTGGCATAGGCTACTACACACCTAGGCTGTATATGG... |
Task1_train_31789 | A sequence alteration has been identified in DKC1 (dyskerin pseudouridine synthase 1) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; Dyskeratosis congenita | TGGTCGCTTATGGAACTTTCCGGCCCCCTGCGTGAGCGCTTCTGTGGGATGTTTAAGCTCTGCCATAGCCACGTGGTGAACCGGAAGGGAAGCCGACACGTGCAGTAGCCTACAGTCAGTTACCCAGCCATGGGACCCATACATTTGGCCTTACACACCTTGTTTTCTCGCTTACCTACGGATATACGTTCTAAGAAATGGGTCGTTAGGCGATTTCATCATTGTGTGAACATCAGAGGGCTCTTACACAAACCTAGGTGGCATAGGCTACTACACACCTAGGCTGTATATGGTGTAGCGTATGGCTCCTAGGCTTCAAA... | TGGTCGCTTATGGAACTTTCCGGCCCCCTGCGTGAGCGCTTCTGTGGGATGTTTAAGCTCTGCCATAGCCACGTGGTGAACCGGAAGGGAAGCCGACACGTGCAGTAGCCTACAGTCAGTTACCCAGCCATGGGACCCATACATTTGGCCTTACACACCTTGTTTTCTCGCTTACCTACGGATATACGTTCTAAGAAATGGGTCGTTAGGCGATTTCATCATTGTGTGAACATCAGAGGGCTCTTACACAAACCTAGGTGGCATAGGCTACTACACACCTAGGCTGTATATGGTGTAGCGTATGGCTCCTAGGCTTCAAA... |
Task1_train_31790 | This alteration in DKC1 (dyskerin pseudouridine synthase 1) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Dyskeratosis congenita | AAATATAGCACAGGGCCGGGCGCGGTGGCTCAGGCCTGTGATCCCAGCCCAGGCTGGCGGATCACCTGCGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTTAGGTGGGCGTGGTGGTATACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAGAAGGAGGTTGCAGTGAGCCGAGTTTCTGCCACTGCACTCCAGCCTGGGGAAAGAGTGTGACCGTCTCAAAAAAAAAAAATTATATATATATATAAATATGTGTGTG... | AAATATAGCACAGGGCCGGGCGCGGTGGCTCAGGCCTGTGATCCCAGCCCAGGCTGGCGGATCACCTGCGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTTAGGTGGGCGTGGTGGTATACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAGAAGGAGGTTGCAGTGAGCCGAGTTTCTGCCACTGCACTCCAGCCTGGGGAAAGAGTGTGACCGTCTCAAAAAAAAAAAATTATATATATATATAAATATGTGTGTG... |
Task1_train_31791 | Given a variant located on Chromosome X and affecting DKC1 (dyskerin pseudouridine synthase 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Dyskeratosis congenita | GCACAGGGCCGGGCGCGGTGGCTCAGGCCTGTGATCCCAGCCCAGGCTGGCGGATCACCTGCGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTTAGGTGGGCGTGGTGGTATACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAGAAGGAGGTTGCAGTGAGCCGAGTTTCTGCCACTGCACTCCAGCCTGGGGAAAGAGTGTGACCGTCTCAAAAAAAAAAAATTATATATATATATAAATATGTGTGTGTATATAT... | GCACAGGGCCGGGCGCGGTGGCTCAGGCCTGTGATCCCAGCCCAGGCTGGCGGATCACCTGCGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTTAGGTGGGCGTGGTGGTATACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAGAAGGAGGTTGCAGTGAGCCGAGTTTCTGCCACTGCACTCCAGCCTGGGGAAAGAGTGTGACCGTCTCAAAAAAAAAAAATTATATATATATATAAATATGTGTGTGTATATAT... |
Task1_train_31792 | This gene mutation involves DKC1 (dyskerin pseudouridine synthase 1) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; Dyskeratosis congenita, X-linked | GCCGGGCGCGGTGGCTCAGGCCTGTGATCCCAGCCCAGGCTGGCGGATCACCTGCGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTTAGGTGGGCGTGGTGGTATACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAGAAGGAGGTTGCAGTGAGCCGAGTTTCTGCCACTGCACTCCAGCCTGGGGAAAGAGTGTGACCGTCTCAAAAAAAAAAAATTATATATATATATAAATATGTGTGTGTATATATGTATATT... | GCCGGGCGCGGTGGCTCAGGCCTGTGATCCCAGCCCAGGCTGGCGGATCACCTGCGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTTAGGTGGGCGTGGTGGTATACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAGAAGGAGGTTGCAGTGAGCCGAGTTTCTGCCACTGCACTCCAGCCTGGGGAAAGAGTGTGACCGTCTCAAAAAAAAAAAATTATATATATATATAAATATGTGTGTGTATATATGTATATT... |
Task1_train_31793 | A variant has been detected on Chromosome X in DKC1 (dyskerin pseudouridine synthase 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 | TCCCTTGGAGGTCCCAGTGAAAAGGCATAGGAAGCCTTGTTTTCTGTTTAAAAGGCATACATTTCCATGGCAGTAATGGAATTGTTCAAAATCGGGTGGGAAGTTTAATAGGTTATATTTCTGTCCTGTCGAAGGAAATACAACACGCTGAAGAATTTCTTATCAAACCTGAATCCAAAGTTGCTAAGTTGGACACGTCTCAGTGGCCCCTTTTGCTAAAGGTATGTGGTTAAAATCGTGCATCAGATGAATGCCTGCTTTTACGTTATTTCCAAGTGTTAAACAATTGATTGAGAATGCTTACTGCTGGCATCCTTGAC... | TCCCTTGGAGGTCCCAGTGAAAAGGCATAGGAAGCCTTGTTTTCTGTTTAAAAGGCATACATTTCCATGGCAGTAATGGAATTGTTCAAAATCGGGTGGGAAGTTTAATAGGTTATATTTCTGTCCTGTCGAAGGAAATACAACACGCTGAAGAATTTCTTATCAAACCTGAATCCAAAGTTGCTAAGTTGGACACGTCTCAGTGGCCCCTTTTGCTAAAGGTATGTGGTTAAAATCGTGCATCAGATGAATGCCTGCTTTTACGTTATTTCCAAGTGTTAAACAATTGATTGAGAATGCTTACTGCTGGCATCCTTGAC... |
Task1_train_31794 | This variant lies on Chromosome X and affects the gene DKC1 (dyskerin pseudouridine synthase 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Dyskeratosis congenita | GTTATTATTGATTATAGTCACCCCGTTGTGCTATTAAATAGTCTCACTCTTCTTGTTCATTCTTTTGGTTTTTTGGTGGTGGTGTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTTGCTCTTTTCACCCAGACTGCAGTGCAGAGACGTGACCTCGGCTCACTGCAACTTCTGCTTCCCAGGTTCAAGCGATTCTCGTGCCTCAGCCTTCCGAGTAGCTAGGATTACAGGTGCACACCATGACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTTGTCATGTTGGTCAGGCTGGTCTCGAACTTCTGACC... | GTTATTATTGATTATAGTCACCCCGTTGTGCTATTAAATAGTCTCACTCTTCTTGTTCATTCTTTTGGTTTTTTGGTGGTGGTGTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTTGCTCTTTTCACCCAGACTGCAGTGCAGAGACGTGACCTCGGCTCACTGCAACTTCTGCTTCCCAGGTTCAAGCGATTCTCGTGCCTCAGCCTTCCGAGTAGCTAGGATTACAGGTGCACACCATGACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTTGTCATGTTGGTCAGGCTGGTCTCGAACTTCTGACC... |
Task1_train_31795 | The gene DKC1 (dyskerin pseudouridine synthase 1) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Dyskeratosis congenita, X-linked | AGCTTTGGCTATTTTGAGTCTTTTGTGGTTCCATGTAAAGTACCAGTGTTTTTTAACTTGTGAAAGCTTAGCTACTGTTGGATTGTCTCTTAAGACTTTAAATGCTCTGCGCACCCTCTTAGTGAATGAACCTTAGAGCTATTCATTTAATGGGTCTAATTTGTACCAGAAGTAAGCATGTCATCAGGATTCCTTAGCTCTGTGAGCAGGCAAGGCAGCCACGGCTTATGGACAGCAGCAGAAAAGGAATCCTTAAAACTTCAAAGGTTCTGTGGCCCCAAAGGGAGTGTGCATGCCGTTCTTATAGACGTCTTGAGCTG... | AGCTTTGGCTATTTTGAGTCTTTTGTGGTTCCATGTAAAGTACCAGTGTTTTTTAACTTGTGAAAGCTTAGCTACTGTTGGATTGTCTCTTAAGACTTTAAATGCTCTGCGCACCCTCTTAGTGAATGAACCTTAGAGCTATTCATTTAATGGGTCTAATTTGTACCAGAAGTAAGCATGTCATCAGGATTCCTTAGCTCTGTGAGCAGGCAAGGCAGCCACGGCTTATGGACAGCAGCAGAAAAGGAATCCTTAAAACTTCAAAGGTTCTGTGGCCCCAAAGGGAGTGTGCATGCCGTTCTTATAGACGTCTTGAGCTG... |
Task1_train_31796 | This alteration in DKC1 (dyskerin pseudouridine synthase 1) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Dyskeratosis congenita, X-linked | TTTTTAACTTGTGAAAGCTTAGCTACTGTTGGATTGTCTCTTAAGACTTTAAATGCTCTGCGCACCCTCTTAGTGAATGAACCTTAGAGCTATTCATTTAATGGGTCTAATTTGTACCAGAAGTAAGCATGTCATCAGGATTCCTTAGCTCTGTGAGCAGGCAAGGCAGCCACGGCTTATGGACAGCAGCAGAAAAGGAATCCTTAAAACTTCAAAGGTTCTGTGGCCCCAAAGGGAGTGTGCATGCCGTTCTTATAGACGTCTTGAGCTGCAAGCCTGTTATGTGTATCGTTAGGTGCTTTGGTTAGGTGTTTTTTAAC... | TTTTTAACTTGTGAAAGCTTAGCTACTGTTGGATTGTCTCTTAAGACTTTAAATGCTCTGCGCACCCTCTTAGTGAATGAACCTTAGAGCTATTCATTTAATGGGTCTAATTTGTACCAGAAGTAAGCATGTCATCAGGATTCCTTAGCTCTGTGAGCAGGCAAGGCAGCCACGGCTTATGGACAGCAGCAGAAAAGGAATCCTTAAAACTTCAAAGGTTCTGTGGCCCCAAAGGGAGTGTGCATGCCGTTCTTATAGACGTCTTGAGCTGCAAGCCTGTTATGTGTATCGTTAGGTGCTTTGGTTAGGTGTTTTTTAAC... |
Task1_train_31797 | This is a variant in DKC1 (dyskerin pseudouridine synthase 1), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | ATCACACAGTGGAATGGCGAATTTCATGCACGTTAGTGGCTACCAAGGAGTGCAGAGAGGTGTCTGTCACCTGGAGTGTCCACAGTGGTCAAGGAGTCTGGTCAAGGGATTGTCTGTTAAGCCACACCGGTGTGAAGAGTGGGTTAGGTGTTGGTGAAGTGAAGAGGGGAGGGGAGAGTTCAGGGCATTGGGAGCAAGCAGCATGTGCAAAGGCAAAAAAGTAGAGTGGCTGCGGTGGGGACGTTATGTCTGCAGAGGCTCTCACTAATAAGCTTTGTGATCTTCAACAAGTCCTGTGTGTGTTGGAGTTAGTGGGCAAA... | ATCACACAGTGGAATGGCGAATTTCATGCACGTTAGTGGCTACCAAGGAGTGCAGAGAGGTGTCTGTCACCTGGAGTGTCCACAGTGGTCAAGGAGTCTGGTCAAGGGATTGTCTGTTAAGCCACACCGGTGTGAAGAGTGGGTTAGGTGTTGGTGAAGTGAAGAGGGGAGGGGAGAGTTCAGGGCATTGGGAGCAAGCAGCATGTGCAAAGGCAAAAAAGTAGAGTGGCTGCGGTGGGGACGTTATGTCTGCAGAGGCTCTCACTAATAAGCTTTGTGATCTTCAACAAGTCCTGTGTGTGTTGGAGTTAGTGGGCAAA... |
Task1_train_31798 | Here is a mutation in F8 (coagulation factor VIII) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Hereditary factor VIII deficiency disease | GAATTATATCATTTTTACTCTGAGTTCAATTTAATCTGGTTTTCTAACTCACTAATTTGGTTTTCTAGAGTGTCCATCTTGCTATTCAGTGCCCCTATTTGTTTTAAAAATCAGTGTTCACATTTTTATTTCCAGTGTAAAAACACAATTCTCAAAGGCATTTGTTTGTATGTGTCAATGTTTTATTTAACTCATTACTGAAGAAACCAGCAGGAAAATAAAAGAGCTAGTTCCATGAACATTTGAGAAATAGAGATGTATATAGTCAATGGGAAAAGAATGCCAAAATAAGATTATCAAGTTAAACATAACAGGAAATA... | GAATTATATCATTTTTACTCTGAGTTCAATTTAATCTGGTTTTCTAACTCACTAATTTGGTTTTCTAGAGTGTCCATCTTGCTATTCAGTGCCCCTATTTGTTTTAAAAATCAGTGTTCACATTTTTATTTCCAGTGTAAAAACACAATTCTCAAAGGCATTTGTTTGTATGTGTCAATGTTTTATTTAACTCATTACTGAAGAAACCAGCAGGAAAATAAAAGAGCTAGTTCCATGAACATTTGAGAAATAGAGATGTATATAGTCAATGGGAAAAGAATGCCAAAATAAGATTATCAAGTTAAACATAACAGGAAATA... |
Task1_train_31799 | An alteration has been detected in F8 (coagulation factor VIII) on Chromosome X. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Hereditary factor VIII deficiency disease | CATTTTTACTCTGAGTTCAATTTAATCTGGTTTTCTAACTCACTAATTTGGTTTTCTAGAGTGTCCATCTTGCTATTCAGTGCCCCTATTTGTTTTAAAAATCAGTGTTCACATTTTTATTTCCAGTGTAAAAACACAATTCTCAAAGGCATTTGTTTGTATGTGTCAATGTTTTATTTAACTCATTACTGAAGAAACCAGCAGGAAAATAAAAGAGCTAGTTCCATGAACATTTGAGAAATAGAGATGTATATAGTCAATGGGAAAAGAATGCCAAAATAAGATTATCAAGTTAAACATAACAGGAAATAAAACCATAT... | CATTTTTACTCTGAGTTCAATTTAATCTGGTTTTCTAACTCACTAATTTGGTTTTCTAGAGTGTCCATCTTGCTATTCAGTGCCCCTATTTGTTTTAAAAATCAGTGTTCACATTTTTATTTCCAGTGTAAAAACACAATTCTCAAAGGCATTTGTTTGTATGTGTCAATGTTTTATTTAACTCATTACTGAAGAAACCAGCAGGAAAATAAAAGAGCTAGTTCCATGAACATTTGAGAAATAGAGATGTATATAGTCAATGGGAAAAGAATGCCAAAATAAGATTATCAAGTTAAACATAACAGGAAATAAAACCATAT... |
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